Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family
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Dihydropyridine receptor congenital myopathy is a recently described congenital myopathy caused by dominant or recessive mutations in the CACNA1S gene. To date, only 11 cases from 7 families were described in a single report. Here, we describe a consanguineous... ...