Electrical myotonia in heterozygous carriers of recessive myotonia congenita.

doi:10.1002/(sici)1097-4598(199901)22:1<123::aid-mus20>3.0.co;2-y

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Article

Electrical myotonia in heterozygous carriers of recessive myotonia congenita.

Muscle & nerve - 1 Jan 1999

Deymeer F, Lehmann-Horn F, Serdaroğlu P, Cakirkaya S, Benz S, Rüdel R, Ozdemir C

Abstract excerpt

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 we...

Topics

Action Potentials
Chloride Channels
Electromyography
Fathers
Female
Genes, Recessive
Heterozygote
Humans
Male
Mothers
Muscle, Skeletal
Mutation
Myotonia Congenita

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