Ann Clin Neurophysiol.
2024 Apr;26(1):22-25. 10.14253/acn.23008.
A recurrent case of SCN4A related Paramyotonia congenita in two Korean brothers: a case report
- Affiliations
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- 1Department of Neurology, Kyungpook National University Chilgok Hospital, Daegu, Korea
- 2Department of Neurology, Dongsan Hospital, Keimyung University School of Medicine, Daegu, Korea
- 3Department of Neurology, School of Medicine, Kyungpook National University, Daegu, Korea
- KMID: 2554850
- DOI: http://doi.org/10.14253/acn.23008
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.
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