Muscular involvement and tendon contracture in limb-girdle muscular dystrophy 2Y: a mild adult phenotype and literature review

BACKGROUND: Limb girdle muscular dystrophy type 2Y (LGMD2Y) is a rare subgroup of limb girdle muscular dystrophy featuring limb-girdle weakness, tendon contracture and cardiac involvement. It is caused by the mutation of TOR1AIP1, which encodes nuclear membrane protein LAP1 (lamina-associated polype...

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Detalles Bibliográficos
Autores principales: Feng, Xuelin, Wu, Jinlang, Xian, Wenbiao, Liao, Bing, Liao, Songjie, Yao, Xiaoli, Zhang, Weixi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7466787/
https://www.ncbi.nlm.nih.gov/pubmed/32873274
http://dx.doi.org/10.1186/s12891-020-03616-4

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