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Electrical myotonia in heterozygous carriers of recessive myotonia congenita

✍ Scribed by Feza Deymeer; Frank Lehmann-Horn; Piraye Serdaroğlu; Sevinç Çakirkaya; Sandra Benz; Reinhardt Rüdel; Coşkun Özdemir

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
67 KB
Volume
22
Category
Article
ISSN
0148-639X

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✦ Synopsis

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.

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