Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family.
Uluç Yiş,
Semra Hiz,
Sezgin Güneş,
Gülden Diniz,
Figen Baydan,
Ana Töpf,
Ece Sonmezler,
Hanns Lochmüller,
Rita Horvath,
Yavuz Oktay
Aug 13, 2019
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....