Article
Limb-girdle muscular dystrophy type 2A in Brazilian children.
Arquivos de neuro-psiquiatria - 1 Dec 2015
Albuquerque Marco Antônio Veloso de, Abath Neto Osório, Silva Francisco Marcos Alencar da, Zanoteli Edmar, Reed Umbertina Conti
Abstract excerpt
UNLABELLED: Calpainopathy is an autosomal recessive limb girdle muscular dystrophy (LGMD2A) caused by mutations in CAPN3 gene. OBJECTIVE: To present clinical and histological findings in six children with a molecular diagnosis of LGMD2A and additionally the MRI findings in two of them. METHOD: We retrospectively assessed medical records of 6 patients with mutation on CAPN3 gene. RESULTS: All patients were female...
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