Article
A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene.
Neurology - 12 Dec 2000
Nagamitsu S, Matsuura T, Khajavi M, Armstrong R, Gooch C, Harati Y, Ashizawa T
Abstract excerpt
OBJECTIVES: To identify the disease-causing mutation and its molecular consequence for a clinically distinct type of myotonic myopathy. BACKGROUND: The authors encountered a unique myotonic disorder of early onset in a 37-year-old man and his 47-year-old sister. METHODS: After examining known loci of inherited myotonic disorders, the authors looked for mutations within the CLCN1 gene using single strand...
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