Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child/DR. SCHUELKE AND COLLEAGUES REPLY
DR. SCHUELKE AND COLLEAGUES REPLY: Williams raises the question of whether the increased muscle mass in the child we describe might be due to an imprinting disorder and suggests that maternal isodisomy should be ruled out. Here we provide data to rule out uniparental isodisomy of chromosome 2 on the...
Saved in:
| Published in | The New England journal of medicine Vol. 351; no. 10; p. 1030 |
|---|---|
| Main Authors | , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Boston
Massachusetts Medical Society
02.09.2004
|
| Subjects | |
| Online Access | Get full text |
Cover
Loading…
| Abstract | DR. SCHUELKE AND COLLEAGUES REPLY: Williams raises the question of whether the increased muscle mass in the child we describe might be due to an imprinting disorder and suggests that maternal isodisomy should be ruled out. Here we provide data to rule out uniparental isodisomy of chromosome 2 on the basis of microsatellite-marker analysis of specimens from the patient and his mother. We detected a founder haplotype for which the patient was homozygous in a 20-cM segment around the myostatin gene (Fig. 1). |
|---|---|
| AbstractList | DR. SCHUELKE AND COLLEAGUES REPLY: Williams raises the question of whether the increased muscle mass in the child we describe might be due to an imprinting disorder and suggests that maternal isodisomy should be ruled out. Here we provide data to rule out uniparental isodisomy of chromosome 2 on the basis of microsatellite-marker analysis of specimens from the patient and his mother. We detected a founder haplotype for which the patient was homozygous in a 20-cM segment around the myostatin gene (Fig. 1). |
| Author | Williams, Marc S Catipovic, Branimir Uhlenberg, Birgit Lucke, Barbara Schuelke, Markus |
| Author_xml | – sequence: 1 givenname: Branimir surname: Catipovic fullname: Catipovic, Branimir – sequence: 2 givenname: Marc surname: Williams middlename: S fullname: Williams, Marc S – sequence: 3 givenname: Birgit surname: Uhlenberg fullname: Uhlenberg, Birgit – sequence: 4 givenname: Barbara surname: Lucke fullname: Lucke, Barbara – sequence: 5 givenname: Markus surname: Schuelke fullname: Schuelke, Markus |
| BookMark | eNqNi8sKgkAYRocoyC7v8NPeMmesXIpNCdmFykWrkJrQkBmbfyR8-wx6gL7NWZzz9UhbKilaxJp6lNqMObM2sRzHXdhs7tMu6SE-nWZT5lsk29YKTWpyCdvqSyUhQFS3PDXiDu_cZLDWCrHReCsERHUptNGqzGpoTimEWV7cJ8vjGE5hlPB4wyHYLSHcxzEP1gk_wZEf4suAdB5pgWL4Y5-MVvwcRnap1asSaK5PVWnZqKvrUp_6zFvQv6IPM7RHHA |
| CODEN | NEJMAG |
| ContentType | Journal Article |
| Copyright | Copyright © 2004 Massachusetts Medical Society. All rights reserved. |
| Copyright_xml | – notice: Copyright © 2004 Massachusetts Medical Society. All rights reserved. |
| DBID | 0TZ 7RV 7X7 7XB 8AO 8C1 8FE 8FH 8FI ABUWG AFKRA AN0 AZQEC BBNVY BEC BENPR BHPHI CCPQU DWQXO FYUFA GHDGH GNUQQ GUQSH HCIFZ K0Y LK8 M0R M0T M1P M2M M2O M2P M7P MBDVC NAPCQ PQEST PQQKQ PQUKI PRINS PSYQQ Q9U |
| DatabaseName | Pharma and Biotech Premium PRO Nursing & Allied Health Database Health & Medical Collection ProQuest Central (purchase pre-March 2016) ProQuest Pharma Collection Public Health Database ProQuest SciTech Collection ProQuest Natural Science Collection Hospital Premium Collection ProQuest Central (Alumni) ProQuest Central British Nursing Database ProQuest Central Essentials Biological Science Collection eLibrary ProQuest Central Natural Science Collection ProQuest One Community College ProQuest Central Korea Health Research Premium Collection Health Research Premium Collection (Alumni) ProQuest Central Student Research Library Prep SciTech Premium Collection New England Journal of Medicine Biological Sciences Consumer Health Database Healthcare Administration Database PML(ProQuest Medical Library) Psychology Database Research Library ProQuest Science Journals Biological Science Database Research Library (Corporate) Nursing & Allied Health Premium ProQuest One Academic Eastern Edition (DO NOT USE) ProQuest One Academic ProQuest One Academic UKI Edition ProQuest Central China ProQuest One Psychology ProQuest Central Basic |
| DatabaseTitle | ProQuest One Psychology Pharma and Biotech Premium PRO Research Library Prep ProQuest Central Student ProQuest Central Essentials elibrary ProQuest Central (Alumni Edition) SciTech Premium Collection ProQuest One Community College New England Journal of Medicine ProQuest Natural Science Collection ProQuest Pharma Collection ProQuest Central China ProQuest Central Health Research Premium Collection Natural Science Collection ProQuest Central Korea Biological Science Collection ProQuest Research Library ProQuest Public Health ProQuest Biological Science Collection ProQuest Central Basic ProQuest Science Journals ProQuest Family Health ProQuest One Academic Eastern Edition British Nursing Index with Full Text ProQuest Health Management ProQuest Nursing & Allied Health Source ProQuest Hospital Collection Health Research Premium Collection (Alumni) Biological Science Database ProQuest SciTech Collection Nursing & Allied Health Premium ProQuest Health & Medical Complete ProQuest Medical Library ProQuest Psychology Journals ProQuest One Academic UKI Edition ProQuest One Academic |
| DatabaseTitleList | ProQuest One Psychology |
| Database_xml | – sequence: 1 dbid: BENPR name: ProQuest Central url: https://www.proquest.com/central sourceTypes: Aggregation Database |
| DeliveryMethod | fulltext_linktorsrc |
| Discipline | Medicine |
| EISSN | 1533-4406 |
| ExternalDocumentID | 688525101 |
| Genre | Commentary Biography Correspondence |
| GroupedDBID | --- -DZ -ET -~X .-4 .55 .CO .GJ 0R~ 0TZ 0WA 123 186 1CY 1KJ 1VV 29N 2KS 2WC 34G 36B 39C 3O- 3V. 4.4 53G 5RE 6TJ 7FN 7RV 7X7 7XB 85S 8AO 8C1 8FE 8FH 8FI AACLI AAEJM AAIKC AAMNW AAQQT AARDX AAUTI AAWTL AAYOK ABACO ABBLC ABCQX ABEFU ABEHJ ABIVO ABOCM ABPPZ ABQIJ ABUWG ABWJO ACGFS ACGOD ACKOT ACNCT ACPFK ACPRK ACPVT ACRZS ACTDY ADBBV ADRHT ADUKH AENEX AERZD AFFDN AFFNX AFKRA AFOSN AGFXO AGHSJ AGNAY AHMBA AJJEV AJUXI ALIPV ALMA_UNASSIGNED_HOLDINGS AN0 AQUVI AZQEC BBNVY BCU BEC BENPR BHPHI BKEYQ BKNYI BNQBC BPHCQ BVXVI C45 CCPQU CJ0 CS3 DCD DU5 DWQXO EBS EJD EX3 F20 F5P FD8 FM. FYUFA G8K GNUQQ GUQSH HCIFZ HF~ HZ~ J5H K-O K0Y KOO L7B LK8 M0R M0T M1P M2M M2O M2P M7P MBDVC MVM N4W NAPCQ NEJ NHB O9- OHT OK1 OMK OVD P-O P2P PCD PQEST PQQKQ PQUKI PRINS PROAC PSQYO PSYQQ Q9U RHI RWL RXW SJFOW SJN SKT TAE TAF TEORI TN5 TUQ TWZ UCV UIG UKR VQA W2G WH7 WHG WOQ WOW X7M XJT XOL XYN XZL YCJ YFH YHZ YR2 YYP YZZ ZCA ZGI ZKB ZVN ZXP ~KM |
| ID | FETCH-proquest_journals_2239394583 |
| IEDL.DBID | 8C1 |
| ISSN | 0028-4793 |
| IngestDate | Thu Oct 10 19:41:10 EDT 2024 |
| IsPeerReviewed | true |
| IsScholarly | true |
| Issue | 10 |
| Language | English |
| LinkModel | DirectLink |
| MergedId | FETCHMERGED-proquest_journals_2239394583 |
| PQID | 223939458 |
| PQPubID | 40644 |
| ParticipantIDs | proquest_journals_223939458 |
| PublicationCentury | 2000 |
| PublicationDate | 20040902 |
| PublicationDateYYYYMMDD | 2004-09-02 |
| PublicationDate_xml | – month: 09 year: 2004 text: 20040902 day: 02 |
| PublicationDecade | 2000 |
| PublicationPlace | Boston |
| PublicationPlace_xml | – name: Boston |
| PublicationTitle | The New England journal of medicine |
| PublicationYear | 2004 |
| Publisher | Massachusetts Medical Society |
| Publisher_xml | – name: Massachusetts Medical Society |
| RelatedPersons | Hercules |
| RelatedPersons_xml | – fullname: Hercules |
| SSID | ssj0000149 |
| Score | 3.5808525 |
| Snippet | DR. SCHUELKE AND COLLEAGUES REPLY: Williams raises the question of whether the increased muscle mass in the child we describe might be due to an imprinting... |
| SourceID | proquest |
| SourceType | Aggregation Database |
| StartPage | 1030 |
| SubjectTerms | Hercules |
| Title | Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child/DR. SCHUELKE AND COLLEAGUES REPLY |
| URI | https://www.proquest.com/docview/223939458 |
| Volume | 351 |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwfR3LSsNAcLAtiBfxiVoNg3hd2zTJpj1JTLcNmtSSGoinkid6STRtD_69u8lWBKHnYYdlduf9ArgTVrKm0ZwkupYQPeM8F2dqRPppzNlrGHMPQIQGvBl1Av0pNEJZm7OSZZVbmVgL6rRMRIy8NxCzuka6MXz4_CJiaZRIrsoNGi3oqELPiUZxW_0zPUpavzKA9E_c1jpkcgSH0vhDq3mtY9jLihPY92R6-xTeve9SdPh8FOhtmhw5bumXpShipjgVao2DVxwDOtyLrNZVyWmF_FCE9aTi3ti_x4XtBMx9ZmjNxmi_uC6zpgFboM_m7tsZ3E7Yq-2Q7U2X8k-tlr8U0M6hXZRFdgFo5nlOaSrSJzo3LWikck85pmbC2TAyUnoJ3R2IrnZCu3DQlKmMSH9wDe11tcluuAZexwq0zNBUamor0Hlks7n_AyR-jRs |
| link.rule.ids | 314,780,784,12056,12223,21388,31719,33266,33744,43310,43579,43805,73745,74014,74302 |
| linkProvider | ProQuest |
| linkToHtml | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwfV3JTsMwEB1BKwEXxKpCWUaIq-mSxG1PqKRuA3VC1UUqpyiLI7gkkLYH_h47dRESUs8jW9bYs4_fANwrL9kwaEIi04iIKaTMhaIRkHocSvFqhzICUKkB16POzHyZW3Pdm7PQbZUbnVgo6jiLVI681lRYXR3Taj9-fhE1NEoVV_UEjV0oK-B0qwTlJ-aNxn_wo7T_q1NI_xRuYUX6R3Co3T_sru_rGHZEegJ7ri5wn8K7-52pPz4fKbqrdZUcNxwUMaqsKQ6UYZPkhdwBHRlH5ss8k9xCuSjAAqu41hs_4MR2ZowPGXa9HtqvnLPuYMYmOGYj_nYGd302tR2yOamvX9XC_-WBcQ6lNEtFBbCVJAmlsSqgmNK5oEFDxsohbUVSEAMrphdQ3bLR5VbqLew7U5f7_NkbVuFg3bTSIfXmFZSW-UpcS3u8DG80138Aw6SPKA |
| linkToPdf | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwfV1LT8JAEJ4oJMSL8RkVHxPjtRZoWeBkELZUaWtTJMFT08c2emmVx8F_7yxdjIkJ58luNt_uvGdnAO6klWwYLNMS00g0UxDPxaIZaY00JvbqxuQByNCA6zF7aj7P2jPVUmihyio3MnEtqNMikTFyvSV7dfXMdlfPVFWEP7QePr80OUBKJlrVNI1dqJJSbLQqUH3knh_86SWlbGEVTvonfNcaxTqAfWUKYr-8u0PYEfkR1FyV7D6Gd_e7kP99PnJ0V2XGHDdoihRlBBVHUskReUE7oE0-5Xw5Lwg5pEURrvsW68PgHicDe8qdMce-N8TBi-Pw_mjKJxhw33k7gVuLvw5sbXPSUL2wRfiLh3EKlbzIxRlgJ8syxlKZTDHJ0GBRk_zmmHUSYsqonbJzqG_Z6GIr9QZqBHjoPHnjOuyV9Ss9rdG6hMpyvhJXpJqX8bUC_QfLKJNV |
| 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=Myostatin+Mutation+Associated+with+Gross+Muscle+Hypertrophy+in+a+Child%2FDR.+SCHUELKE+AND+COLLEAGUES+REPLY&rft.jtitle=The+New+England+journal+of+medicine&rft.au=Catipovic%2C+Branimir&rft.au=Williams%2C+Marc+S&rft.au=Uhlenberg%2C+Birgit&rft.au=Lucke%2C+Barbara&rft.date=2004-09-02&rft.pub=Massachusetts+Medical+Society&rft.issn=0028-4793&rft.eissn=1533-4406&rft.volume=351&rft.issue=10&rft.spage=1030&rft.externalDBID=HAS_PDF_LINK&rft.externalDocID=688525101 |
| thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0028-4793&client=summon |
| thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0028-4793&client=summon |
| thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0028-4793&client=summon |