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Clinical study of paramyotonia congenita with and without myotonia in a warm environment

✍ Scribed by Dr. Anton Haass; Dr. Kenneth Ricker; Dr. Reinhardt Rüdel; Dr. Frank Lehmann-Horn; Dr. Reinhard Böhlen; Dr. Reinhard Dengler; Dr. Hans Georg Mertens


Publisher
John Wiley and Sons
Year
1981
Tongue
English
Weight
603 KB
Volume
4
Category
Article
ISSN
0148-639X

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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