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A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phenotypic classification

✍ Scribed by D. Ferriby; T. Stojkovic; D. Sternberg; J.-F. Hurtevent; J.-P. Hurtevent; P. Vermersch


Book ID
116792425
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
181 KB
Volume
16
Category
Article
ISSN
0960-8966

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Autosomal dominant myotonia congenita or Thomsen's disease (OMIM\* 160800) and autosomal recessive myotonia congenita or Becker's (OMIM\* 255700) are rare nondystrophic disorders due to allelic mutations of the muscle chloride channel gene, CLCN1. We have analysed all 24 exons of the CLCN1 gene, in