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GTR Home > Conditions/Phenotypes > Hereditary myopathy with lactic acidosis due to ISCU deficiency


Hereditary myopathy with lactic acidosis (HML) is an autosomal recessive muscular disorder characterized by childhood onset of exercise intolerance with muscle tenderness, cramping, dyspnea, and palpitations. Biochemical features include lactic acidosis and, rarely, rhabdomyolysis. It is a chronic disorder with remission and exacerbation of the muscle phenotype (summary by Sanaker et al., 2010). [from OMIM]

Genes See tests for all associated and related genes

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

Clinical features


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