A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation

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Bibliographic Details
Published inMuscle & nerve Vol. 54; no. 4; pp. 806 - 808
Main Authors De Fuenmayor-Fernández De La Hoz, Carlos Pablo, Domínguez-González, Cristina, Gonzalo-Martínez, Juan Francisco, Esteban-Pérez, Jesús, Fernández-Marmiesse, Ana, Arenas, Joaquín, Martín, Miguel A., Hernández-Laín, Aurelio
Format Journal Article
LanguageEnglish
Published United States Blackwell Publishing Ltd 01.10.2016
Wiley Subscription Services, Inc
Subjects
Adult
Choline Kinase - genetics
Electron Transport Complex II - genetics
Electron Transport Complex IV - genetics
Female
Humans
Microscopy, Electron
Muscle, Skeletal - pathology
Muscle, Skeletal - ultrastructure
Muscular Dystrophies - genetics
Mutation - genetics
Nerve Fibers - pathology
Nerve Fibers - ultrastructure
Phenotype
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Bibliography:ArticleID:MUS25183
istex:82EDEDA1EA546A4F4B23E9EEDC21380588C38D19
ark:/67375/WNG-8LHG46VL-5
The authors have no conflict of interest and no financial interest to disclose.
Disclosure
ISSN:0148-639X
1097-4598
DOI:10.1002/mus.25183