July 28, 1999FEBS LettersOpen Access

A missense mutation in canine ClC‐1 causes recessive myotonia congenita in the dog1

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Structured PICO

Population

Miniature Schnauzers with autosomal recessive myotonia congenita and cultured mammalian cell line expressing recombinant ClC-1

Intervention

Introduction of a missense mutation (threonine to methionine in D5 transmembrane segment) in canine ClC-1

Comparator

Wild-type ClC-1 channels

Outcome

Voltage-dependence of activation and open probability of the channelsurrogate

Identification of a canine ClC-1 mutation causing myotonia congenita provides a new animal model for inherited skeletal muscle disease.

Authors

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Supports a new canine myotonia congenita model; leaves open translation to human channelopathies or therapies.

Rhodes et al. (1999) studied this question.

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