Electrical myotonia in heterozygous carriers of recessive myotonia congenita


Deymeer F., Lehmann-Horn F., Serdaroglu P., Cakirkaya S., Benz S., Rudel R., ...Daha Fazla

MUSCLE & NERVE, cilt.22, ss.123-125, 1999 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 22 Konu: 1
  • Basım Tarihi: 1999
  • Dergi Adı: MUSCLE & NERVE
  • Sayfa Sayıları: ss.123-125

Özet

We investigated electrophysiologically the unaffected parents of patients with recessive myotonia congenita. We studied 18 families, in nine of which the diagnosis was confirmed by molecular genetics. Brief myotonic discharges were present in at least one parent in 67% of the families. Fathers were more likely than mothers to show these discharges. The difficulty in distinguishing very mildly affected parents with dominant myotonia congenita from the heterozygous carriers of recessive myotonia congenita is stressed. (C) 1999 John Wiley & Sons, Inc.