GTR Home > Conditions/Phenotypes > Myopathy with lactic acidosis, hereditary


Excerpted from the GeneReview: Myopathy with Deficiency of ISCU
Myopathy with deficiency of ISCU, a mitochondrial myopathy, is classically characterized by lifelong exercise intolerance in which minor exertion causes tachycardia, shortness of breath, fatigue, and pain of active muscles; episodes of more profound exercise intolerance associated with rhabdomyolysis, myoglobinuria, and weakness that may be severe; and typically full recovery of muscle strength between episodes of rhabdomyolysis. Affected individuals usually have near-normal strength; they can have large calves.

Available tests

17 tests are in the database for this condition.

Check Associated genes and Related conditions for additional relevant tests.

Associated genes

  • Also known as: 2310020H20Rik, HML, ISU2, NIFU, NIFUN, hnifU, ISCU
    Summary: iron-sulfur cluster assembly enzyme

Clinical features


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