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


Mitochondrial DNA depletion syndrome-12B is an autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged-red fibers, mtDNA depletion, and accumulation of abnormal mitochondria (summary by Echaniz-Laguna et al., 2012). For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (603041). [from OMIM]

Available tests

43 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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