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GTR Home > Conditions/Phenotypes > Mitochondrial complex 1 deficiency, nuclear type 29

Mitochondrial complex 1 deficiency, nuclear type 29

Synonyms
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29

Summary

Mitochondrial complex I deficiency nuclear type 29 (MC1DN29) is an autosomal recessive metabolic disorder that usually presents in childhood, adolescence, or adulthood with exercise intolerance and easy fatigue with myalgias and muscle weakness. However, a severe multisystem presentation with chronic renal failure and cardiomyopathy in infancy has been reported (Sanchez-Caballero et al., 2016; Alston et al., 2016). For a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see 252010. [from OMIM]

Available tests

9 tests are in the database for this condition.

Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HT007, MC1DN29, TMEM126B
    Summary: transmembrane protein 126B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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