Ontology highlight
ABSTRACT:
SUBMITTER: Moon IS
PROVIDER: S-EPMC2775849 | biostudies-literature | 2009 Dec
REPOSITORIES: biostudies-literature
Moon In-Soo IS Kim Hyang-Sook HS Shin Jin-Hong JH Park Yeong-Eun YE Park Kyu-Hyun KH Shin Yong-Bum YB Bae Jong Seok JS Choi Young-Chul YC Kim Dae-Seong DS
Journal of Korean medical science 20091109 6
Myotonia congenita (MC) is a form of nondystrophic myotonia caused by a mutation of CLCN1, which encodes human skeletal muscle chloride channel (CLC-1). We performed sequence analysis of all coding regions of CLCN1 in patients clinically diagnosed with MC, and identified 10 unrelated Korean patients harboring mutations. Detailed clinical analysis was performed in these patients to identify their clinical characteristics in relation to their genotypes. The CLCN1 mutational analyses revealed nine ...[more]