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

Hereditary myopathy with lactic acidosis due to ISCU deficiency

Synonyms
Myopathy with lactic acidosis, hereditary
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

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]

Available tests

42 tests are in the database for this condition.

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Clinical tests (42 available)

Molecular Genetics Tests

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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Imported from Human Phenotype Ontology (HPO)

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