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Identification of two mutations and a polymorphism in the chloride channel CLCN-1 in patients with Becker's generalized myotonia
被引:18
作者:
Esteban, J
Neumeyer, AM
McKenna-Yasek, D
Brown, RH
机构:
[1] Massachusetts Gen Hosp E, Cecil B Day Lab Neuromuscular Res, Charlestown, MA 02129 USA
[2] Inst Salud Carlos III, Ctr Invest Clin, Neurol Serv, E-28019 Madrid, Spain
关键词:
myotonia congenita;
Thomsen's disease;
Becker's generalized myotonia;
muscle chloride channel;
CLCN-1;
gene;
D O I:
10.1007/s100480050027
中图分类号:
Q3 [遗传学];
学科分类号:
071007 ;
090102 ;
摘要:
Myotonia congenita is an inherited muscle disorder characterized by muscle stiffness and hypertrophy. Its clinical phenotype depends, in part, on whether it is inherited as a dominant or recessive trait, respectively designated Thomsen's disease or Becker's generalized myotonia (BGM). In either case, it is associated with abnormalities in the muscle currents that are linked to the gene (CLCN-1) on human chromosome 7q35 encoding the skeletal muscle chloride channel. Single-strand conformation polymorphism analysis was used to screen two families with the BGM for mutations in the CLCN-1 gene. Two new mutations were found (G 201ins and A317Q). The latter mutation has been previously described in Thomsen's disease.
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页码:185 / 188
页数:4