Author(s): Kinoshita M, Sasaki R, Nagano T, Matsuda A, Nakamura S, et al.
A 37-year-old Japanese woman was referred from another clinic to confirm the diagnosis of myotonia congenita. She had experienced cold-induced myotonia and muscle stiffness from early childhood. Of her three children, her elder son and her daughter have clinical features similar to hers. They experience neither grip nor percussion myotonia during warm weather, whereas myotonia is provoked by cold. Her younger son has no symptoms. DNA analyses of the SCN4A gene showed a C to T transition at nucleotide position 3938 in exon 22 of SCN4A (Thr1313Met) in all three affected family members, but not in the unaffected son. Paramyotonia congenita, the prevalence of which is very low in Japan, was diagnosed based on their clinical features and DNA analysis results.
Referred From: https://www.ncbi.nlm.nih.gov/pubmed/14518676
Author(s): George AL Jr
Author(s): Jurkat-Rott K, Holzherr B, Fauler M, Lehmann-Horn F
Author(s): Hudson AJ, Ebers GC, Bulman DE
Author(s): George AL Jr, Komisarof J, Kallen RG, Barchi RL
Author(s): West JW, Patton DE, Scheuer T, Wang Y, Goldin AL, et al.
Author(s): Popa MO, Alekov AK, Bail S, Lehmann-Horn F, Lerche H
Author(s): Chahine M, George AL Jr, Zhou M, Ji S, Sun W, et al.
Author(s): Yang N, Ji S, Zhou M, Ptácek LJ, Barchi RL, et al.
Author(s): Bouhours M, Luce S, Sternberg D, Willer JC, Fontaine B, et al.
Author(s): Jackson CE, Barohn RJ, Ptacek LJ
Author(s): Lehmann-Horn F, Jurkat-Rott K
Author(s): Wang GK, Russell C, Wang SY