Limb-girdle Muscular Dystrophy Type 2A with Mutation in CAPN3: The First Report in Taiwan

• Auteurs principaux: Chien-Hua Wang (Auteur), Wen-Chen Liang (Auteur), Narihiro Minami (Auteur), Ichizo Nishino (Auteur), Yuh-Jyh Jong (Auteur)
• Format: Livre
• Publié: Elsevier, 2015-02-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

The autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is caused by mutations in the calpain 3 (CAPN3) gene, and it is characterized by selective atrophy and weakness of proximal limb and girdle muscles. We report a 33-year-old woman with initial presentations of exercise intoleranc...