Charcot–Marie–Tooth disease type 4C in Norway: Clinical characteristics, mutation spectrum and minimum prevalence
•Charcot–Marie–Tooth disease, type 4C is the most common recessive CMT in Norway.•We identified six new mutations in the SH3TC2-gene causing CMT4C.•Scoliosis, sensory ataxia and early debut were present in almost all CMT4C patients.•About 50% of CMT4C patients had proximal paresis and cranial nerve...
Saved in:
Published in | Neuromuscular disorders : NMD Vol. 28; no. 8; pp. 639 - 645 |
---|---|
Main Authors | , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
England
Elsevier B.V
01.08.2018
|
Subjects | |
Online Access | Get full text |
Cover
Loading…
Abstract | •Charcot–Marie–Tooth disease, type 4C is the most common recessive CMT in Norway.•We identified six new mutations in the SH3TC2-gene causing CMT4C.•Scoliosis, sensory ataxia and early debut were present in almost all CMT4C patients.•About 50% of CMT4C patients had proximal paresis and cranial nerve affection.
Autosomal recessive Charcot–Marie–Tooth disease (CMT) is considered rare and phenotypic descriptions are scarce for the different subgroups. Mutations in the SH3TC2 gene, causing recessive demyelinating CMT type 4C have been found in several Norwegian CMT patients over the last years. We aimed to estimate a minimum prevalence and to study the genotypic and phenotypic variability of CMT4C in Norway. Patients were selected from diagnostic registries in medical genetic centers in Norway for cases of CMT4C. All patients were invited to complete a questionnaire and give medical consent to the use of clinical data from medical hospital records. A total of 35 patients from 31 families were found with CMT4C, which gives a minimum prevalence of 0.7/100,000 in Norway. Six new mutations were identified. Most patients had debut in the first decade with foot deformities, distal limb paresis, sensory ataxia and scoliosis. Proximal lower limb paresis and cranial nerve involvement was seen in about half of the patients. CMT4C is the most common recessive CMT in Norway. In addition to the classic distal limb affection, early debut, scoliosis, proximal paresis, cranial nerve affection and sensory ataxia are the most prominent features of CMT4C. |
---|---|
AbstractList | •Charcot–Marie–Tooth disease, type 4C is the most common recessive CMT in Norway.•We identified six new mutations in the SH3TC2-gene causing CMT4C.•Scoliosis, sensory ataxia and early debut were present in almost all CMT4C patients.•About 50% of CMT4C patients had proximal paresis and cranial nerve affection.
Autosomal recessive Charcot–Marie–Tooth disease (CMT) is considered rare and phenotypic descriptions are scarce for the different subgroups. Mutations in the SH3TC2 gene, causing recessive demyelinating CMT type 4C have been found in several Norwegian CMT patients over the last years. We aimed to estimate a minimum prevalence and to study the genotypic and phenotypic variability of CMT4C in Norway. Patients were selected from diagnostic registries in medical genetic centers in Norway for cases of CMT4C. All patients were invited to complete a questionnaire and give medical consent to the use of clinical data from medical hospital records. A total of 35 patients from 31 families were found with CMT4C, which gives a minimum prevalence of 0.7/100,000 in Norway. Six new mutations were identified. Most patients had debut in the first decade with foot deformities, distal limb paresis, sensory ataxia and scoliosis. Proximal lower limb paresis and cranial nerve involvement was seen in about half of the patients. CMT4C is the most common recessive CMT in Norway. In addition to the classic distal limb affection, early debut, scoliosis, proximal paresis, cranial nerve affection and sensory ataxia are the most prominent features of CMT4C. Autosomal recessive Charcot-Marie-Tooth disease (CMT) is considered rare and phenotypic descriptions are scarce for the different subgroups. Mutations in the SH3TC2 gene, causing recessive demyelinating CMT type 4C have been found in several Norwegian CMT patients over the last years. We aimed to estimate a minimum prevalence and to study the genotypic and phenotypic variability of CMT4C in Norway. Patients were selected from diagnostic registries in medical genetic centers in Norway for cases of CMT4C. All patients were invited to complete a questionnaire and give medical consent to the use of clinical data from medical hospital records. A total of 35 patients from 31 families were found with CMT4C, which gives a minimum prevalence of 0.7/100,000 in Norway. Six new mutations were identified. Most patients had debut in the first decade with foot deformities, distal limb paresis, sensory ataxia and scoliosis. Proximal lower limb paresis and cranial nerve involvement was seen in about half of the patients. CMT4C is the most common recessive CMT in Norway. In addition to the classic distal limb affection, early debut, scoliosis, proximal paresis, cranial nerve affection and sensory ataxia are the most prominent features of CMT4C. |
Author | Tallaksen, Chantal Vedeler, Christian Ørstavik, Kristin Braathen, Geir Julius Fagerheim, Toril Arntzen, Kjell Arne Høyer, Helle Nebuchennykh, Maria Østern, Rune |
Author_xml | – sequence: 1 givenname: Kjell Arne surname: Arntzen fullname: Arntzen, Kjell Arne email: kjell.arne.arntzen@unn.no organization: Department of Neurology, University Hospital of North Norway, Norway – sequence: 2 givenname: Helle orcidid: 0000-0002-5445-0520 surname: Høyer fullname: Høyer, Helle organization: Department of Medical Genetics, Telemark Hospital, Norway – sequence: 3 givenname: Kristin surname: Ørstavik fullname: Ørstavik, Kristin organization: Unit for Congenital and Hereditary Neuromuscular Conditions (EMAN), Department of Neurology, Oslo University Hospital, Norway – sequence: 4 givenname: Chantal surname: Tallaksen fullname: Tallaksen, Chantal organization: Department of Neurology, Oslo University Hospital and Oslo University, Faculty of Medicine, Norway – sequence: 5 givenname: Christian surname: Vedeler fullname: Vedeler, Christian organization: Department of Neurology, Haukeland University Hospital and Department of Clinical Medicine, University of Bergen, Norway – sequence: 6 givenname: Rune orcidid: 0000-0002-1491-8512 surname: Østern fullname: Østern, Rune organization: Department of Medical Genetics, St. Olavs Hospital, Norway – sequence: 7 givenname: Maria surname: Nebuchennykh fullname: Nebuchennykh, Maria organization: Department of Neurology, University Hospital of North Norway, Norway – sequence: 8 givenname: Geir Julius orcidid: 0000-0003-4703-9028 surname: Braathen fullname: Braathen, Geir Julius organization: Department of Medical Genetics, Telemark Hospital, Norway – sequence: 9 givenname: Toril surname: Fagerheim fullname: Fagerheim, Toril organization: National Neuromuscular Centre, University Hospital of North Norway, Norway |
BackLink | https://www.ncbi.nlm.nih.gov/pubmed/30001926$$D View this record in MEDLINE/PubMed |
BookMark | eNp9kMFu1DAURS1URKeFD2CDvGRBwrOd2AmsqogCUls2ZW05zhvVoyQOtlM0O_6hf8iX1KMpLLt6d3Huld45Iyezn5GQtwxKBkx-3JXzNJQcWFOCLAGqF2TDGiUKLmR1QjbQSiiaVspTchbjDoDVSqpX5FRAzi2XG7J2dyZYn_7-ebg2wWG-t96nOzq4iCYiTfsFadVRN9MbH36b_SfajW521ozU5q6xCYOLydn4gU5rMsn5mcYFbQrrRM080CnjU85LwHsz4mzxNXm5NWPEN0_3nPy8_HLbfSuufnz93l1cFVbUIhWGVQKHFnu1bRhjVvZ9DaCwNVg1FXIGfaNaxUVfc1NVjeGtFL1AYVBxaK04J--Pu0vwv1aMSU8uWhxHM6Nfo-aggNesrkRG2RG1wccYcKuX4CYT9pqBPtjWO51t64NtDVJn27nz7ml-7Scc_jf-6c3A5yOA-cl7h0FH6w4CBheyID1498z8I-rzlG0 |
CitedBy_id | crossref_primary_10_3390_ijms19124072 crossref_primary_10_1007_s00415_023_11559_8 crossref_primary_10_1111_jns_12305 crossref_primary_10_3389_fneur_2021_598168 crossref_primary_10_1016_j_jns_2019_06_027 crossref_primary_10_4103_0028_3886_388101 |
Cites_doi | 10.1093/hmg/5.10.1685 10.1016/j.nmd.2009.01.006 10.1002/mus.24640 10.1212/WNL.0b013e3182a9f56a 10.1038/jhg.2013.15 10.1093/hmg/ddp427 10.1159/000443706 10.1111/j.1529-8027.2012.00382.x 10.1136/jnnp-2014-308826 10.1212/WNL.48.4.867 10.1016/j.pneurobio.2012.03.003 10.1038/gim.2015.30 10.1111/j.1468-1331.2010.03037.x 10.1212/01.wnl.0000230225.19797.93 10.1093/brain/awq168 10.1016/j.nmd.2012.06.031 10.1073/pnas.0905523106 10.1086/379525 10.4103/0028-3886.158222 10.1186/1471-2350-14-94 10.1016/j.nmd.2008.04.001 10.1016/j.nmd.2006.05.005 10.1111/j.1399-0004.2011.01640.x 10.1155/2014/210401 10.1111/jns.12175 10.1111/j.1399-0004.1974.tb00638.x 10.1136/jnnp-2013-307421 10.1002/mus.23540 10.1093/hmg/ddp565 10.1136/jnnp.66.5.569 |
ContentType | Journal Article |
Copyright | 2018 Elsevier B.V. Copyright © 2018 Elsevier B.V. All rights reserved. |
Copyright_xml | – notice: 2018 Elsevier B.V. – notice: Copyright © 2018 Elsevier B.V. All rights reserved. |
DBID | NPM AAYXX CITATION 7X8 |
DOI | 10.1016/j.nmd.2018.06.004 |
DatabaseName | PubMed CrossRef MEDLINE - Academic |
DatabaseTitle | PubMed CrossRef MEDLINE - Academic |
DatabaseTitleList | PubMed |
Database_xml | – sequence: 1 dbid: NPM name: PubMed url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database |
DeliveryMethod | fulltext_linktorsrc |
Discipline | Medicine |
EISSN | 1873-2364 |
EndPage | 645 |
ExternalDocumentID | 10_1016_j_nmd_2018_06_004 30001926 S0960896618300269 |
Genre | Research Support, Non-U.S. Gov't Journal Article |
GroupedDBID | --- --K --M .1- .FO .GJ .~1 0R~ 123 1B1 1P~ 1RT 1~. 1~5 29N 4.4 457 4G. 53G 5VS 7-5 71M 8P~ 9JM AABNK AACTN AADPK AAEDT AAEDW AAIAV AAIKJ AAKOC AALRI AAOAW AAQFI AAQXK AAXLA AAXUO ABBQC ABCQJ ABFNM ABFRF ABJNI ABLJU ABLVK ABMAC ABMZM ABTEW ABXDB ABYKQ ACDAQ ACGFO ACGFS ACIUM ACRLP ADBBV ADEZE ADMUD AEBSH AEFWE AEKER AENEX AEVXI AFCTW AFKWA AFRHN AFTJW AFXIZ AGHFR AGUBO AGWIK AGYEJ AHHHB AIEXJ AIKHN AITUG AJBFU AJOXV AJRQY AJUYK AKRLJ ALMA_UNASSIGNED_HOLDINGS AMFUW AMRAJ ANZVX ASPBG AVWKF AXJTR AZFZN BKOJK BLXMC BNPGV CS3 DU5 EBS EFJIC EFLBG EJD EO8 EO9 EP2 EP3 F5P FDB FEDTE FGOYB FIRID FNPLU FYGXN G-2 G-Q GBLVA HDW HMK HMO HMQ HVGLF HZ~ IHE J1W KOM LCYCR LX8 M29 M2V M41 MO0 MOBAO N9A O-L O9- OAUVE OP~ OZT P-8 P-9 P2P PC. Q38 R2- RIG ROL RPZ SAE SCC SDF SDG SDP SEL SES SEW SNS SPCBC SSH SSN SSZ T5K UHS UNMZH WUQ Z5R ZA5 ~G- AAXKI ADVLN AFJKZ AKRWK NPM AAYXX ACRPL ADNMO CITATION 7X8 |
ID | FETCH-LOGICAL-c353t-a143ed9eb7f8111c6bb5007e9ae484e210b879723b52a448a2963b3e3ae7209c3 |
IEDL.DBID | AIKHN |
ISSN | 0960-8966 |
IngestDate | Fri Oct 25 01:59:28 EDT 2024 Fri Dec 06 06:22:09 EST 2024 Sat Sep 28 08:39:36 EDT 2024 Fri Feb 23 02:13:51 EST 2024 |
IsPeerReviewed | true |
IsScholarly | true |
Issue | 8 |
Keywords | Autosomal CMT4C Homozygous Demyelinating |
Language | English |
License | Copyright © 2018 Elsevier B.V. All rights reserved. |
LinkModel | DirectLink |
MergedId | FETCHMERGED-LOGICAL-c353t-a143ed9eb7f8111c6bb5007e9ae484e210b879723b52a448a2963b3e3ae7209c3 |
Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
ORCID | 0000-0003-4703-9028 0000-0002-5445-0520 0000-0002-1491-8512 |
PMID | 30001926 |
PQID | 2070251543 |
PQPubID | 23479 |
PageCount | 7 |
ParticipantIDs | proquest_miscellaneous_2070251543 crossref_primary_10_1016_j_nmd_2018_06_004 pubmed_primary_30001926 elsevier_sciencedirect_doi_10_1016_j_nmd_2018_06_004 |
PublicationCentury | 2000 |
PublicationDate | August 2018 2018-08-00 20180801 |
PublicationDateYYYYMMDD | 2018-08-01 |
PublicationDate_xml | – month: 08 year: 2018 text: August 2018 |
PublicationDecade | 2010 |
PublicationPlace | England |
PublicationPlace_xml | – name: England |
PublicationTitle | Neuromuscular disorders : NMD |
PublicationTitleAlternate | Neuromuscul Disord |
PublicationYear | 2018 |
Publisher | Elsevier B.V |
Publisher_xml | – name: Elsevier B.V |
References | Iguchi, Hashiguchi, Ito, Toda, Urano, Shimizu (bib0005) 2013; 47 Kalane, Datar, Mahadevan (bib0006) 2015; 63 Kessali, Zemmouri, Guilbot, Maisonobe, Brice, LeGuern (bib0002) 1997; 48 Bucci, Bakke, Progida (bib0014) 2012; 99 Richards, Aziz, Bale, Bick, Das, Gastier-Foster (bib0026) 2015; 17 Hoyer, Braathen, Busk, Holla, Svendsen, Hilmarsen (bib0025) 2014; 2014 Perez-Garrigues, Sivera, Vilchez, Espinos, Palau, Sevilla (bib0020) 2014; 85 Senderek, Bergmann, Stendel, Kirfel, Verpoorten, De Jonghe (bib0004) 2003; 73 Varley, Bourque, Baker (bib0017) 2015; 52 Stendel, Roos, Kleine, Arnaud, Ozcelik, Sidiropoulos (bib0010) 2010; 133 Azzedine, Ravise, Verny, Gabreels-Festen, Lammens, Grid (bib0018) 2006; 67 LeGuern, Guilbot, Kessali, Ravise, Tassin, Maisonobe (bib0003) 1996; 5 Hayashi, Abe, Murakami, Yamao, Arai, Hattori (bib0007) 2013; 58 Colomer, Gooding, Angelicheva, King, Guillen-Navarro, Parman (bib0019) 2006; 16 Lassuthova, Mazanec, Vondracek, Siskova, Haberlova, Sabova (bib0008) 2011; 80 Yger, Stojkovic, Tardieu, Maisonobe, Brice, Echaniz-Laguna (bib0021) 2012; 17 Hoyer, Busk, Holla, Strand, Russell, Skjelbred (bib0027) 2015; 135 Sivera, Sevilla, Vilchez, Martinez-Rubio, Chumillas, Vazquez (bib0029) 2013; 81 Roberts, Peden, Buss, Bright, Latouche, Reilly (bib0011) 2010; 19 Lupo, Galindo, Martinez-Rubio, Sevilla, Vilchez, Palau (bib0012) 2009; 18 Ostern, Fagerheim, Hjellnes, Nygard, Mellgren, Nilssen (bib0028) 2013; 14 Kingston, Urquhart, O`Sullivan, Hughes, Black (bib0030) 2012; 22 Arnaud, Zenker, de Preux Charles, Stendel, Roos, Medard (bib0013) 2009; 106 Gabreels-Festen, van Beersum, Eshuis, LeGuern, Gabreels, van Engelen (bib0016) 1999; 66 Fridman, Bundy, Reilly, Pareyson, Bacon, Burns (bib0001) 2015; 86 Piscosquito, Saveri, Magri, Ciano, Gandioli, Morbin (bib0009) 2016; 21 Gosselin, Thiffault, Tetreault, Chau, Dicaire, Loisel (bib0031) 2008; 18 Skre (bib0023) 1974; 6 Barreto, Oliveira, Nunes, de Franca Costa, Garcez, Goes (bib0024) 2016; 46 Houlden, Laura, Ginsberg, Jungbluth, Robb, Blake (bib0015) 2009; 19 Braathen, Sand, Lobato, Hoyer, Russell (bib0022) 2011; 18 LeGuern (10.1016/j.nmd.2018.06.004_bib0003) 1996; 5 Skre (10.1016/j.nmd.2018.06.004_bib0023) 1974; 6 Ostern (10.1016/j.nmd.2018.06.004_bib0028) 2013; 14 Gabreels-Festen (10.1016/j.nmd.2018.06.004_bib0016) 1999; 66 Kalane (10.1016/j.nmd.2018.06.004_bib0006) 2015; 63 Varley (10.1016/j.nmd.2018.06.004_bib0017) 2015; 52 Kessali (10.1016/j.nmd.2018.06.004_bib0002) 1997; 48 Senderek (10.1016/j.nmd.2018.06.004_bib0004) 2003; 73 Azzedine (10.1016/j.nmd.2018.06.004_bib0018) 2006; 67 Perez-Garrigues (10.1016/j.nmd.2018.06.004_bib0020) 2014; 85 Bucci (10.1016/j.nmd.2018.06.004_bib0014) 2012; 99 Colomer (10.1016/j.nmd.2018.06.004_bib0019) 2006; 16 Fridman (10.1016/j.nmd.2018.06.004_bib0001) 2015; 86 Lassuthova (10.1016/j.nmd.2018.06.004_bib0008) 2011; 80 Hoyer (10.1016/j.nmd.2018.06.004_bib0027) 2015; 135 Kingston (10.1016/j.nmd.2018.06.004_bib0030) 2012; 22 Arnaud (10.1016/j.nmd.2018.06.004_bib0013) 2009; 106 Houlden (10.1016/j.nmd.2018.06.004_bib0015) 2009; 19 Roberts (10.1016/j.nmd.2018.06.004_bib0011) 2010; 19 Braathen (10.1016/j.nmd.2018.06.004_bib0022) 2011; 18 Hayashi (10.1016/j.nmd.2018.06.004_bib0007) 2013; 58 Sivera (10.1016/j.nmd.2018.06.004_bib0029) 2013; 81 Iguchi (10.1016/j.nmd.2018.06.004_bib0005) 2013; 47 Piscosquito (10.1016/j.nmd.2018.06.004_bib0009) 2016; 21 Lupo (10.1016/j.nmd.2018.06.004_bib0012) 2009; 18 Richards (10.1016/j.nmd.2018.06.004_bib0026) 2015; 17 Barreto (10.1016/j.nmd.2018.06.004_bib0024) 2016; 46 Hoyer (10.1016/j.nmd.2018.06.004_bib0025) 2014; 2014 Stendel (10.1016/j.nmd.2018.06.004_bib0010) 2010; 133 Gosselin (10.1016/j.nmd.2018.06.004_bib0031) 2008; 18 Yger (10.1016/j.nmd.2018.06.004_bib0021) 2012; 17 |
References_xml | – volume: 81 start-page: 1617 year: 2013 end-page: 1625 ident: bib0029 article-title: Charcot–Marie–Tooth disease: genetic and clinical spectrum in a Spanish clinical series publication-title: Neurology contributor: fullname: Vazquez – volume: 73 start-page: 1106 year: 2003 end-page: 1119 ident: bib0004 article-title: Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot–Marie–Tooth type 4C neuropathy publication-title: Am J Hum Genet contributor: fullname: De Jonghe – volume: 85 start-page: 824 year: 2014 end-page: 827 ident: bib0020 article-title: Vestibular impairment in Charcot–Marie–Tooth disease type 4C publication-title: J Neurol Neurosurg Psychiatry contributor: fullname: Sevilla – volume: 18 start-page: 4603 year: 2009 end-page: 4614 ident: bib0012 article-title: Missense mutations in the SH3TC2 protein causing Charcot–Marie–Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway publication-title: Hum Mol Genet contributor: fullname: Palau – volume: 67 start-page: 602 year: 2006 end-page: 606 ident: bib0018 article-title: Spine deformities in Charcot–Marie–Tooth 4C caused by SH3TC2 gene mutations publication-title: Neurology contributor: fullname: Grid – volume: 48 start-page: 867 year: 1997 end-page: 873 ident: bib0002 article-title: A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot–Marie–Tooth disease publication-title: Neurology contributor: fullname: LeGuern – volume: 58 start-page: 273 year: 2013 end-page: 278 ident: bib0007 article-title: Molecular analysis of the genes causing recessive demyelinating Charcot–Marie–Tooth disease in Japan publication-title: J Hum Genet contributor: fullname: Hattori – volume: 14 start-page: 94 year: 2013 ident: bib0028 article-title: Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies publication-title: BMC Med Genet contributor: fullname: Nilssen – volume: 133 start-page: 2462 year: 2010 end-page: 2474 ident: bib0010 article-title: SH3TC2, a protein mutant in Charcot–Marie–Tooth neuropathy, links peripheral nerve myelination to endosomal recycling publication-title: Brain contributor: fullname: Sidiropoulos – volume: 21 start-page: 142 year: 2016 end-page: 149 ident: bib0009 article-title: Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot–Marie–Tooth disease (CMT4) publication-title: J Peripher Nerv Syst contributor: fullname: Morbin – volume: 16 start-page: 449 year: 2006 end-page: 453 ident: bib0019 article-title: Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2 publication-title: Neuromuscul Disord contributor: fullname: Parman – volume: 17 start-page: 112 year: 2012 end-page: 122 ident: bib0021 article-title: Characteristics of clinical and electrophysiological pattern of Charcot–Marie–Tooth 4C publication-title: J Peripher Nerv Syst contributor: fullname: Echaniz-Laguna – volume: 80 start-page: 334 year: 2011 end-page: 345 ident: bib0008 article-title: High frequency of SH3TC2 mutations in Czech HMSN I patients publication-title: Clin Genet contributor: fullname: Sabova – volume: 106 start-page: 17528 year: 2009 end-page: 17533 ident: bib0013 article-title: SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system publication-title: Proc Natl Acad Sci U S A contributor: fullname: Medard – volume: 22 start-page: 811 year: 2012 ident: bib0030 article-title: Dual pathology identified by next generation sequencing in siblings with peripheral neuropathy, ataxia and retinal dystrophy publication-title: Neuromuscul Disord contributor: fullname: Black – volume: 17 start-page: 405 year: 2015 end-page: 424 ident: bib0026 article-title: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology publication-title: Genet Med contributor: fullname: Gastier-Foster – volume: 66 start-page: 569 year: 1999 end-page: 574 ident: bib0016 article-title: Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot–Marie–Tooth disease) with a gene locus on chromosome 5q23-q33 publication-title: J Neurol Neurosurg Psychiatry contributor: fullname: van Engelen – volume: 5 start-page: 1685 year: 1996 end-page: 1688 ident: bib0003 article-title: Homozygosity mapping of an autosomal recessive form of demyelinating Charcot–Marie–Tooth disease to chromosome 5q23-q33 publication-title: Hum Mol Genet contributor: fullname: Maisonobe – volume: 18 start-page: 483 year: 2008 end-page: 492 ident: bib0031 article-title: Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster publication-title: Neuromuscul disord contributor: fullname: Loisel – volume: 86 start-page: 873 year: 2015 end-page: 878 ident: bib0001 article-title: CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis publication-title: J Neurol Neurosurg Psychiatry contributor: fullname: Burns – volume: 52 start-page: 444 year: 2015 end-page: 449 ident: bib0017 article-title: Phenotypic variability of CMT4C in a French-Canadian kindred publication-title: Muscle Nerve contributor: fullname: Baker – volume: 18 start-page: 39 year: 2011 end-page: 48 ident: bib0022 article-title: Genetic epidemiology of Charcot–Marie–Tooth in the general population publication-title: Eur J Neurol contributor: fullname: Russell – volume: 6 start-page: 98 year: 1974 end-page: 118 ident: bib0023 article-title: Genetic and clinical aspects of Charcot–Marie–Tooth's disease publication-title: Clin Genet contributor: fullname: Skre – volume: 135 start-page: 1838 year: 2015 end-page: 1844 ident: bib0027 article-title: Hereditary peripheral neuropathies diagnosed by next-generation sequencing publication-title: Tidsskr Nor Laegeforen contributor: fullname: Skjelbred – volume: 19 start-page: 264 year: 2009 end-page: 269 ident: bib0015 article-title: The phenotype of Charcot–Marie–Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy publication-title: Neuromuscul Disord contributor: fullname: Blake – volume: 19 start-page: 1009 year: 2010 end-page: 1018 ident: bib0011 article-title: Mistargeting of SH3TC2 away from the recycling endosome causes Charcot–Marie–Tooth disease type 4C publication-title: Hum Mol Genet contributor: fullname: Reilly – volume: 63 start-page: 395 year: 2015 end-page: 398 ident: bib0006 article-title: First reported case of Charcot Marie Tooth disease type 4C in a child from India with SH3TC2 mutation but absent spinal deformities publication-title: Neurol India contributor: fullname: Mahadevan – volume: 46 start-page: 157 year: 2016 end-page: 165 ident: bib0024 article-title: Epidemiologic study of Charcot–Marie–Tooth disease: a systematic review publication-title: Neuroepidemiology contributor: fullname: Goes – volume: 2014 year: 2014 ident: bib0025 article-title: Genetic diagnosis of Charcot–Marie–Tooth disease in a population by next-generation sequencing publication-title: BioMed Res Int contributor: fullname: Hilmarsen – volume: 47 start-page: 283 year: 2013 end-page: 286 ident: bib0005 article-title: Charcot–Marie–Tooth disease type 4C in Japan: report of a case publication-title: Muscle Nerve contributor: fullname: Shimizu – volume: 99 start-page: 191 year: 2012 end-page: 225 ident: bib0014 article-title: Charcot–Marie–Tooth disease and intracellular traffic publication-title: Prog Neurobiol contributor: fullname: Progida – volume: 5 start-page: 1685 issue: 10 year: 1996 ident: 10.1016/j.nmd.2018.06.004_bib0003 article-title: Homozygosity mapping of an autosomal recessive form of demyelinating Charcot–Marie–Tooth disease to chromosome 5q23-q33 publication-title: Hum Mol Genet doi: 10.1093/hmg/5.10.1685 contributor: fullname: LeGuern – volume: 19 start-page: 264 issue: 4 year: 2009 ident: 10.1016/j.nmd.2018.06.004_bib0015 article-title: The phenotype of Charcot–Marie–Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy publication-title: Neuromuscul Disord doi: 10.1016/j.nmd.2009.01.006 contributor: fullname: Houlden – volume: 52 start-page: 444 issue: 3 year: 2015 ident: 10.1016/j.nmd.2018.06.004_bib0017 article-title: Phenotypic variability of CMT4C in a French-Canadian kindred publication-title: Muscle Nerve doi: 10.1002/mus.24640 contributor: fullname: Varley – volume: 81 start-page: 1617 issue: 18 year: 2013 ident: 10.1016/j.nmd.2018.06.004_bib0029 article-title: Charcot–Marie–Tooth disease: genetic and clinical spectrum in a Spanish clinical series publication-title: Neurology doi: 10.1212/WNL.0b013e3182a9f56a contributor: fullname: Sivera – volume: 58 start-page: 273 issue: 5 year: 2013 ident: 10.1016/j.nmd.2018.06.004_bib0007 article-title: Molecular analysis of the genes causing recessive demyelinating Charcot–Marie–Tooth disease in Japan publication-title: J Hum Genet doi: 10.1038/jhg.2013.15 contributor: fullname: Hayashi – volume: 18 start-page: 4603 issue: 23 year: 2009 ident: 10.1016/j.nmd.2018.06.004_bib0012 article-title: Missense mutations in the SH3TC2 protein causing Charcot–Marie–Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway publication-title: Hum Mol Genet doi: 10.1093/hmg/ddp427 contributor: fullname: Lupo – volume: 46 start-page: 157 issue: 3 year: 2016 ident: 10.1016/j.nmd.2018.06.004_bib0024 article-title: Epidemiologic study of Charcot–Marie–Tooth disease: a systematic review publication-title: Neuroepidemiology doi: 10.1159/000443706 contributor: fullname: Barreto – volume: 17 start-page: 112 issue: 1 year: 2012 ident: 10.1016/j.nmd.2018.06.004_bib0021 article-title: Characteristics of clinical and electrophysiological pattern of Charcot–Marie–Tooth 4C publication-title: J Peripher Nerv Syst doi: 10.1111/j.1529-8027.2012.00382.x contributor: fullname: Yger – volume: 86 start-page: 873 issue: 8 year: 2015 ident: 10.1016/j.nmd.2018.06.004_bib0001 article-title: CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis publication-title: J Neurol Neurosurg Psychiatry doi: 10.1136/jnnp-2014-308826 contributor: fullname: Fridman – volume: 135 start-page: 1838 issue: 20 year: 2015 ident: 10.1016/j.nmd.2018.06.004_bib0027 article-title: Hereditary peripheral neuropathies diagnosed by next-generation sequencing publication-title: Tidsskr Nor Laegeforen contributor: fullname: Hoyer – volume: 48 start-page: 867 issue: 4 year: 1997 ident: 10.1016/j.nmd.2018.06.004_bib0002 article-title: A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot–Marie–Tooth disease publication-title: Neurology doi: 10.1212/WNL.48.4.867 contributor: fullname: Kessali – volume: 99 start-page: 191 issue: 3 year: 2012 ident: 10.1016/j.nmd.2018.06.004_bib0014 article-title: Charcot–Marie–Tooth disease and intracellular traffic publication-title: Prog Neurobiol doi: 10.1016/j.pneurobio.2012.03.003 contributor: fullname: Bucci – volume: 17 start-page: 405 issue: 5 year: 2015 ident: 10.1016/j.nmd.2018.06.004_bib0026 article-title: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology publication-title: Genet Med doi: 10.1038/gim.2015.30 contributor: fullname: Richards – volume: 18 start-page: 39 issue: 1 year: 2011 ident: 10.1016/j.nmd.2018.06.004_bib0022 article-title: Genetic epidemiology of Charcot–Marie–Tooth in the general population publication-title: Eur J Neurol doi: 10.1111/j.1468-1331.2010.03037.x contributor: fullname: Braathen – volume: 67 start-page: 602 issue: 4 year: 2006 ident: 10.1016/j.nmd.2018.06.004_bib0018 article-title: Spine deformities in Charcot–Marie–Tooth 4C caused by SH3TC2 gene mutations publication-title: Neurology doi: 10.1212/01.wnl.0000230225.19797.93 contributor: fullname: Azzedine – volume: 133 start-page: 2462 issue: Pt 8 year: 2010 ident: 10.1016/j.nmd.2018.06.004_bib0010 article-title: SH3TC2, a protein mutant in Charcot–Marie–Tooth neuropathy, links peripheral nerve myelination to endosomal recycling publication-title: Brain doi: 10.1093/brain/awq168 contributor: fullname: Stendel – volume: 22 start-page: 811 issue: 9–11 year: 2012 ident: 10.1016/j.nmd.2018.06.004_bib0030 article-title: Dual pathology identified by next generation sequencing in siblings with peripheral neuropathy, ataxia and retinal dystrophy publication-title: Neuromuscul Disord doi: 10.1016/j.nmd.2012.06.031 contributor: fullname: Kingston – volume: 106 start-page: 17528 issue: 41 year: 2009 ident: 10.1016/j.nmd.2018.06.004_bib0013 article-title: SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system publication-title: Proc Natl Acad Sci U S A doi: 10.1073/pnas.0905523106 contributor: fullname: Arnaud – volume: 73 start-page: 1106 issue: 5 year: 2003 ident: 10.1016/j.nmd.2018.06.004_bib0004 article-title: Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot–Marie–Tooth type 4C neuropathy publication-title: Am J Hum Genet doi: 10.1086/379525 contributor: fullname: Senderek – volume: 63 start-page: 395 issue: 3 year: 2015 ident: 10.1016/j.nmd.2018.06.004_bib0006 article-title: First reported case of Charcot Marie Tooth disease type 4C in a child from India with SH3TC2 mutation but absent spinal deformities publication-title: Neurol India doi: 10.4103/0028-3886.158222 contributor: fullname: Kalane – volume: 14 start-page: 94 year: 2013 ident: 10.1016/j.nmd.2018.06.004_bib0028 article-title: Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies publication-title: BMC Med Genet doi: 10.1186/1471-2350-14-94 contributor: fullname: Ostern – volume: 18 start-page: 483 issue: 6 year: 2008 ident: 10.1016/j.nmd.2018.06.004_bib0031 article-title: Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster publication-title: Neuromuscul disord doi: 10.1016/j.nmd.2008.04.001 contributor: fullname: Gosselin – volume: 16 start-page: 449 issue: 7 year: 2006 ident: 10.1016/j.nmd.2018.06.004_bib0019 article-title: Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2 publication-title: Neuromuscul Disord doi: 10.1016/j.nmd.2006.05.005 contributor: fullname: Colomer – volume: 80 start-page: 334 issue: 4 year: 2011 ident: 10.1016/j.nmd.2018.06.004_bib0008 article-title: High frequency of SH3TC2 mutations in Czech HMSN I patients publication-title: Clin Genet doi: 10.1111/j.1399-0004.2011.01640.x contributor: fullname: Lassuthova – volume: 2014 year: 2014 ident: 10.1016/j.nmd.2018.06.004_bib0025 article-title: Genetic diagnosis of Charcot–Marie–Tooth disease in a population by next-generation sequencing publication-title: BioMed Res Int doi: 10.1155/2014/210401 contributor: fullname: Hoyer – volume: 21 start-page: 142 issue: 3 year: 2016 ident: 10.1016/j.nmd.2018.06.004_bib0009 article-title: Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot–Marie–Tooth disease (CMT4) publication-title: J Peripher Nerv Syst doi: 10.1111/jns.12175 contributor: fullname: Piscosquito – volume: 6 start-page: 98 issue: 2 year: 1974 ident: 10.1016/j.nmd.2018.06.004_bib0023 article-title: Genetic and clinical aspects of Charcot–Marie–Tooth's disease publication-title: Clin Genet doi: 10.1111/j.1399-0004.1974.tb00638.x contributor: fullname: Skre – volume: 85 start-page: 824 issue: 7 year: 2014 ident: 10.1016/j.nmd.2018.06.004_bib0020 article-title: Vestibular impairment in Charcot–Marie–Tooth disease type 4C publication-title: J Neurol Neurosurg Psychiatry doi: 10.1136/jnnp-2013-307421 contributor: fullname: Perez-Garrigues – volume: 47 start-page: 283 issue: 2 year: 2013 ident: 10.1016/j.nmd.2018.06.004_bib0005 article-title: Charcot–Marie–Tooth disease type 4C in Japan: report of a case publication-title: Muscle Nerve doi: 10.1002/mus.23540 contributor: fullname: Iguchi – volume: 19 start-page: 1009 issue: 6 year: 2010 ident: 10.1016/j.nmd.2018.06.004_bib0011 article-title: Mistargeting of SH3TC2 away from the recycling endosome causes Charcot–Marie–Tooth disease type 4C publication-title: Hum Mol Genet doi: 10.1093/hmg/ddp565 contributor: fullname: Roberts – volume: 66 start-page: 569 issue: 5 year: 1999 ident: 10.1016/j.nmd.2018.06.004_bib0016 article-title: Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot–Marie–Tooth disease) with a gene locus on chromosome 5q23-q33 publication-title: J Neurol Neurosurg Psychiatry doi: 10.1136/jnnp.66.5.569 contributor: fullname: Gabreels-Festen |
SSID | ssj0015767 |
Score | 2.2941499 |
Snippet | •Charcot–Marie–Tooth disease, type 4C is the most common recessive CMT in Norway.•We identified six new mutations in the SH3TC2-gene causing CMT4C.•Scoliosis,... Autosomal recessive Charcot-Marie-Tooth disease (CMT) is considered rare and phenotypic descriptions are scarce for the different subgroups. Mutations in the... |
SourceID | proquest crossref pubmed elsevier |
SourceType | Aggregation Database Index Database Publisher |
StartPage | 639 |
SubjectTerms | Autosomal CMT4C Demyelinating Homozygous |
Title | Charcot–Marie–Tooth disease type 4C in Norway: Clinical characteristics, mutation spectrum and minimum prevalence |
URI | https://dx.doi.org/10.1016/j.nmd.2018.06.004 https://www.ncbi.nlm.nih.gov/pubmed/30001926 https://search.proquest.com/docview/2070251543 |
Volume | 28 |
hasFullText | 1 |
inHoldings | 1 |
isFullTextHit | |
isPrint | |
link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1LSwMxEB7UgngR39YXETyJa7dN9hFvUpSqtBcVvC1JNoWK3S21RbyI_8F_6C9xZjdbENSDl32xYcNMMvlmv5kJwJE1vM8N117TSN8TUao9nUo6KOs3lQnCIo-72ws79-L6IXiYg3aVC0Nhlc72lza9sNbuScNJszEaDBq3BL5jROs4KMmTkPNQw-WIuNra-dVNpzcjExBSF1nT-L5HDSpyswjzyoZUL7RZVvF027X9sDz9Bj-LZehyBZYdfmTnZRdXYc5ma7DYdQz5OkyJPzf55PP9o0tuMJ7vctQGc0wMo3-uTLTZIGO9fPyiXs-Yqw36xMz36s0nbDgtmXpWJGSOp0OmspRROZIhXo_GVCucRLYB95cXd-2O57ZW8AwP-MRTCJNsKq2O-jFaOxNqHSBasFJZEQuLfqCOI9qQTActhR6cauFE1dxyZaOWLw3fhIUsz-w2sEBov8_DPpc8FtLG0g-xoYmsRWigw7QOx5VEk1FZQSOpQsseExR_QuJPivA6UQdRyTz5NgwStPB_NTus9JPg9CDOQ2U2nz7jSxF5UYHgddgqFTfrBS8Bbrjzv4_uwhLdldGAe7CAWrD7iFAm-gDmT9-aB24cfgHqGeba |
link.rule.ids | 314,780,784,4502,24116,27924,27925,45585,45679 |
linkProvider | Elsevier |
linkToHtml | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1LTxsxEB4BlYALKs8GWjASJ8SSTex9mFsVFaWQ5EKQuFm215GCmt0oJKp6QfyH_sP-ks7seiMhQQ-97K52bdmaGY-_2XkY4MxZPuKWm6BlZRiIJDOBySRdtAtb2kZxmcfdH8Tde3HzED2sQKfOhaGwSq_7K51eamv_pump2ZyOx807At8ponUUSrIk5Cp8EBGiXxTqy-dlnEcLAXWZM42tA2peuzbLIK98QtVCW1UNT39Y2xub03vgs9yErj_ClkeP7Gs1wW1YcfkOrPe9f3wXFuQ9t8X8z8vvPhnBeB8WyAvm_TCM_rgy0WHjnA2K2U_964r5yqA_mH1du_mCTRaVn56V6ZizxYTpPGNUjGSCz9MZVQongu3B_fW3Yacb-IMVAssjPg80giSXSWeSUYq6zsbGRIgVnNROpMKhFWjShI4jM1Fbo_2m27hMDXdcu6QdSsv3YS0vcvcJWCRMOOLxiEueCulSGcbY0SbOITAwcdaA85qialrVz1B1YNmjQvIrIr8qg-tEA0RNc_VKCBTq9391O635o3BxkMdD565YPGGjhGyoSPAGHFSMW86CV_A2Pvy_QU9gozvs91Tv--D2CDbpSxUX-BnWkCPuC2KVuTkuZfEvAObnsw |
openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Charcot%E2%80%93Marie%E2%80%93Tooth+disease+type+4C+in+Norway%3A+Clinical+characteristics%2C+mutation+spectrum+and+minimum+prevalence&rft.jtitle=Neuromuscular+disorders+%3A+NMD&rft.au=Arntzen%2C+Kjell+Arne&rft.au=H%C3%B8yer%2C+Helle&rft.au=%C3%98rstavik%2C+Kristin&rft.au=Tallaksen%2C+Chantal&rft.date=2018-08-01&rft.pub=Elsevier+B.V&rft.issn=0960-8966&rft.eissn=1873-2364&rft.volume=28&rft.issue=8&rft.spage=639&rft.epage=645&rft_id=info:doi/10.1016%2Fj.nmd.2018.06.004&rft.externalDocID=S0960896618300269 |
thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0960-8966&client=summon |
thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0960-8966&client=summon |
thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0960-8966&client=summon |