A recurrent case of SCN4A related Paramyotonia congenita in two Korean brothers: a case report
- Author:
Minsung KANG
1
;
Sohyeon KIM
;
Hyungseok HAH
;
Hung Youl SEOK
;
Jin-Sung PARK
Author Information
- Publication Type:4
- From: Annals of Clinical Neurophysiology 2024;26(1):22-25
- CountryRepublic of Korea
- Language:English
- Abstract: Paramyotonia congenita (PMC) is characterized by nondystrophic myotonia aggravated by exercise and cold exposure. SCN4A mutations manifest as various phenotypes of channelopathy, including PMC, myotonia congenita, and periodic paralysis. SCN4A-related channelopathy is characterized by autosomal dominant inheritance. Parental gonadal mosaicism is suspected in cases of recurrent de novo mutation in an autosomal dominantly inherited disease. We report a case of two Korean brothers presenting with PMC due to same de novo SCN4A point mutation, probably due to parental gonadal mosaicism.
