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"Paramyotonia congenita"

Case Report
A recurrent case of SCN4A related Paramyotonia congenita in two Korean brothers: a case report
Minsung Kang, Sohyeon Kim, Hyungseok Hah, Hung Youl Seok, Jin-Sung Park
Ann Clin Neurophysiol 2024;26(1):22-25.   Published online March 25, 2024
DOI: https://doi.org/10.14253/acn.23008
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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