Genetically confirmed limb-girdle muscular dystrophy type 2B with DYSF mutation using gene panel sequencing: A case report

RATIONALE: The limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of disorders characterized by progressive proximal muscle weakness and have more than 30 different subtypes linked to specific gene loci, which manifest as highly overlapping and heterogeneous phenotypes. PATIENT CONCE...

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Detalles Bibliográficos
Autores principales: Lee, Sook Joung, Choi, Eunseok, Shin, Soyoung, Park, Joonhong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2020
Materias:
3500
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7360247/
https://www.ncbi.nlm.nih.gov/pubmed/32664072
http://dx.doi.org/10.1097/MD.0000000000020810

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