Neurology Medical News about Myotonia congenita

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Myotonia congenita in a large consanguineous Arab family: Insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene
Muscle & Nerve, 09/01/09

Shalata A et al. – Although heterozygous individuals were asymptomatic or mildly affected, the homozygous individuals were severely affected. The mutation is a glycine–to–serine residue substitution in a well–conserved motif in helix D of the CLC–1 chloride channel in the skeletal muscle plasmalemma. A novel mutation, 568GG>TC (G190S) in the CLCN1 gene, is responsible for autosomal dominant myotonia congenita with a variable phenotypic spectrum

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