A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene.

Abstract excerpt

AIMS: Desminopathy is a hereditary cardiac and skeletal myopathy caused by mutations in the desmin gene. This study summarizes the clinical, myopathological and genetic features of a series of Chinese patients with desminopathy. METHODS: Thirty-nine cases from five families with autosomal dominant inheritance and two sporadic cases were investigated. The majority of patients presented with mild myopathy and...

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