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GTR Home > Conditions/Phenotypes > Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant

Summary

MTDPS12A is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth. Affected infants have respiratory insufficiency requiring mechanical ventilation and have poor or no motor development. Many die in infancy, and those that survive have profound hypotonia with significant muscle weakness and inability to walk independently. Some patients develop hypertrophic cardiomyopathy. Muscle samples show mtDNA depletion and severe combined mitochondrial respiratory chain deficiencies (summary by Thompson et al., 2016). For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (603041). [from OMIM]

Available tests

30 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: AAC1, ANT, ANT 1, ANT1, MTDPS12, MTDPS12A, PEO2, PEO3, PEOA2, T1, SLC25A4
    Summary: solute carrier family 25 member 4

Clinical features

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