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Mutations of CAPN3 in Korean Patients with Limb-Girdle Muscular Dystrophy

The limb-girdle muscular dystrophy type 2A (LGMD2A) is a recessively inherited disease caused by a mutation of the calpain 3 gene (CAPN3), and is considered one of the most prevalent subtypes of limb-girdle muscular dystrophy (LGMD). In this study, we aimed to identify CAPN3 mutations and to charact...

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Detalles Bibliográficos
Autores principales: Shin, Jin-Hong, Kim, Hyang-Suk, Lee, Chang-Hoon, Kim, Cheol-Min, Park, Kyu-Hyun, Kim, Dae-Seong
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2007
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2693639/
https://www.ncbi.nlm.nih.gov/pubmed/17596655
http://dx.doi.org/10.3346/jkms.2007.22.3.463