[A family of paramyotonia congenita].
We reported a family with paramyotonia congenita which affected six members through three generations. The homogenous clinical features presenting paramyotonia followed by flaccid tetraparesis were found in all patients. In gene analysis using patient's blood, previously identified sodium channel gene point mutations were not present, suggesting the possibility of another sodium channel gene mutation in this family.
Department of Neurology, Hakodate Municipal Hospital.
H
H
Houzen
Y
Y
Maruo
F
F
Moriwaka
K
K
Tashiro
K
K
Abe
D000328:Adult; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009224:Myotonia Congenita / Q000235:genetics* / Q000503:physiopathology; D017354:Point Mutation; D015222:Sodium Channels / Q000235:genetics
D015222:Sodium Channels