Ontology highlight
ABSTRACT:
SUBMITTER: Wang X
PROVIDER: S-EPMC6076900 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Wang Xike X Wu Yue Y Cui Yuxia Y Wang Nan N Folkersen Lasse L Wang Yuchuan Y
Case reports in genetics 20180716
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 functions. Herein we describe the case of two siblings with LGMD that were investigated using whole-exome sequencing followed by Sanger sequencing validation of a specific double-mutation in the <i>TRAPP ...[more]