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Exercise Induced Metabolic Myopathy

Code: H467

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

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

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.

Specifications

Breeds

German Hunting Terrier
Gene

ACADVL
Chromosome

5
Mutation

c.1728C>A
Organ

Muscles
Specimen

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

Autosomal Recessive
Also known as

EIMM

Clinical features

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

References

Pubmed ID: 29491033

Year published: 2018

Omia ID: 2140

Omia variant ID:

Turnaround information

  • 15 working days