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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Dettagli Bibliografici
Pubblicato in:Case Rep Genet
Autori principali: Wang, Xike, Wu, Yue, Cui, Yuxia, Wang, Nan, Folkersen, Lasse, Wang, Yuchuan
Natura: Artigo
Lingua:Inglês
Pubblicazione: Hindawi 2018
Soggetti:
Case Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6076900/
https://ncbi.nlm.nih.gov/pubmed/30105108
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2018/8090797
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