OBO ID: DOID:0080335 |
Term Name: | mitochondrial DNA depletion syndrome 12b | Search Ontology: | |
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Definition: | A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35. (4) | ||
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Ontology: | Human Disease ( DOID:0080335 ) |
OTHER mitochondrial DNA depletion syndrome 12b PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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