Next-generation sequencing identified a novel DYSF variant in a patient with limb-girdle muscular dystrophy type 2B: A case report

RATIONALE: Limb-girdle muscular dystrophy (LGMD) is a genetic disease, which is characterized by muscle atrophy and weakness mainly involving proximal muscles. Accurate diagnosis of LGMD patient is very important for the appropriate management and long-term prognosis. PATIENT CONCERNS: An 18-year-ol...

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Detalles Bibliográficos
Autores principales: Li, Qiao, Tan, Cheng, Chen, Jiajun, Zhang, Lei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2020
Materias:
5300
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7544278/
https://www.ncbi.nlm.nih.gov/pubmed/33031319
http://dx.doi.org/10.1097/MD.0000000000022615

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