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Article

Nonsense and missense mutations in the muscular chloride channel gene Clc-1 of myotonic mice.

The Journal of biological chemistry - 25 Feb 1994

Gronemeier M, Condie A, Prosser J, Steinmeyer K, Jentsch T J, Jockusch H

Abstract excerpt

In mature vertebrate muscle, the chloride channel Clc-1 is necessary for the stabilization of the resting potential. Its functional defect leads to the disease myotonia. The ADR mouse (phenotype ADR, genotype adr/adr) is an animal model for human myotonias. The adr gene is a member of a family of non-complementing recessive autosomal mutations ("alleles" of adr) that cause myotonia in the mouse. The standard...

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PMID: 8119941

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