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Article

Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES

1 Apr 2019

Abstract excerpt

Objective To study the genetic and phenotypic spectrum of patients harboring recessive mutations in BVES. Methods We performed whole-exome sequencing in a multicenter cohort of 1929 patients with a suspected hereditary myopathy, showing unexplained limb-girdle muscular weakness and/or elevated creatine kinase levels. Immunohistochemistry and mRNA experiments on patients9 skeletal muscle tissue were performed to...

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PMID: 31119192
DOI: 10.1212/nxg.0000000000000321

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