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