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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Detalles Bibliográficos
Autores principales: Wang, Xike, Wu, Yue, Cui, Yuxia, Wang, Nan, Folkersen, Lasse, Wang, Yuchuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6076900/
https://www.ncbi.nlm.nih.gov/pubmed/30105108
http://dx.doi.org/10.1155/2018/8090797

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6076900/
https://www.ncbi.nlm.nih.gov/pubmed/30105108
http://dx.doi.org/10.1155/2018/8090797

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