Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy

Limb girdle muscular dystrophies (LGMDs) are a heterogeneous group of genetic myopathies leading primarily to proximal muscle weakness. It is caused by mutations at over 50 known genetic loci typically from mutations in genes encoding constituents of the sarcolemmal dystrophin complex or related fun...

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Bibliographic Details
Main Authors: Xike Wang, Yue Wu, Yuxia Cui, Nan Wang, Lasse Folkersen, Yuchuan Wang
Format: Article
Language:English
Published: Hindawi Limited 2018-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2018/8090797