Article
A novel mutation of dystrophin in a Becker muscular dystrophy family with severe cardiac involvement: from genetics to clinicopathology.
Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology - 1 Jan 2000
Chen Liang, Ren Jie, Chen Xiao, Chen Kai, Rao Man, Zhang Ningning, Yu Wenhua, Song Jiangping
Abstract excerpt
BACKGROUND: Dystrophin gene defects are the pathogenic molecular basis of Becker muscular dystrophy (BMD), characterised by skeletal myopathy and cardiomyopathy. Because of the broad phenotype spectrum, it was difficult to use the traditional diagnostic method to achieve an early accurate diagnosis of BMD-associated cardiomyopathy. METHODS: We applied an in-house gene panel testing and a gene-filtering strategy...
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