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H498

In dogs affected with Myotonia Congenita (MC) part of the skeletal muscle chloride channels are unable to fully open.

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Specifications

Breeds

,

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Year Published

General information

In dogs affected with Myotonia Congenita (MC) part of the skeletal muscle chloride channels are unable to fully open. The result is a delay in skeletal muscle relaxation, frequent contraction and muscle hypertrophy.

This variant of the disorder is caused by a recessive mutation to the gene CLCN1. It is found in the Australian Cattle Dog and the Border Collie.

Clinical features

Dogs suffering from Myotonia Congenital show a stiff gait especially at the onset of movement and during rapid changes in posture (turning quickly, falling). The symptoms may diminish with exercise. Other symptoms are severe skeletal muscle hypertrophy, difficulty rising, increased respiratory sounds, difficulty swallowing, and hypersalivation. The symptoms start at a young age.

Additional information

References

Pubmed ID: 17552451

Omia ID: 698

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