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H467

Exercise induced metabolic myopathy (EIMM) results in muscle weakness.

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Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Also known as

Year Published

General information

Exercise induced metabolic myopathy (EIMM) results in muscle weakness. The weakness is caused by the causative genetic defect in the ACADVL gene. EIMM is inherited as a monogenic autosomal recessive trait.

Clinical features

Clinical features include generalized weakness, exercise intolerance, severe diffuse muscle pain and a brownish discoloration of the urine after exercise.

Additional information

References

Pubmed ID: 29491033

Omia ID: 2140

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