title: Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature.
abstract: Myotonia congenita (MC), paramyotonia congenita (PC) and sodium channel myotonias(SCM) were belonged to Non-dystrophic myotonias, in which muscle relaxation is delayed after voluntary or evoked contraction. These diseases can not be simply distinguished only based on symptoms and signs but also on genetics: more than 100 mutations in the CLCN1 gene have been associated with MC, while at least 20 mutations in the SCN4A gene have been associated with PC and SCM. Most of these genetics studies have been conducted outside China, only several MC, PC, and SCM families accepted gene scan were reported in China. Therefore we analyzed genetic mutations in CLCN1 and SCN4A in 10 Chinese families clinically diagnosed with Non-dystrophic myotonias. Our result revealed 12 potential disease-causing mutations(3 mutations were novel) that were present in the probands and affected family members. We also reviewed all available literature on mutations linked to these 3 disease in Chinese populations. Our results may help identify genetic determinants as well as clarify genotype-phenotype relationships.
authors.affiliation: a Department of Neurology , West China Hospital, Sichuan University , Chengdu , Sichuan Province , P.R. China.
authors.forename: Xinglong
authors.initials: X
authors.lastname: Yang
authors.affiliation: a Department of Neurology , West China Hospital, Sichuan University , Chengdu , Sichuan Province , P.R. China.
authors.forename: Hua
authors.initials: H
authors.lastname: Jia
authors.affiliation: a Department of Neurology , West China Hospital, Sichuan University , Chengdu , Sichuan Province , P.R. China.
authors.forename: Ran
authors.initials: R
authors.lastname: An
authors.affiliation: a Department of Neurology , West China Hospital, Sichuan University , Chengdu , Sichuan Province , P.R. China.
authors.forename: Jing
authors.initials: J
authors.lastname: Xi
authors.affiliation: a Department of Neurology , West China Hospital, Sichuan University , Chengdu , Sichuan Province , P.R. China.
authors.forename: Yanming
authors.initials: Y
authors.lastname: Xu
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D018118:Chloride Channels / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D009222:Myotonia / Q000235:genetics*; D062553:NAV1.4 Voltage-Gated Sodium Channel / Q000235:genetics*; D010375:Pedigree
chemical_list: C086321:CLC-1 channel; D018118:Chloride Channels; D062553:NAV1.4 Voltage-Gated Sodium Channel; C106251:SCN4A protein, human
keywords: CLCN1; SCN4A; myotonia congenita; paramyotonia congenita; sodium channel myotonias