Novel recessive splice site mutation in POPDC1 (BVES) is associated with first-degree atrioventricular block and muscular dystrophy

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The Myocapture project using exome sequencing was set up to identify novel genes involved in neuromuscular disorders. The Institute of Myology’s cohort of 98 families was selected as partner of this French project, after extensive characterisation of the clinical phenotype, muscle imaging and histopathology. Within the cohort, one consanguineous family presented two affected siblings. The index case, was first assessed at age 19 after a heart attack. He showed a first-degree atrioventricular (AV)-block associated with a CPK level as high as 4400 IU/L.

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