Mitochondrial myopathy with cytochrome C oxidase deficiency, severe infantile form (Q95624): Difference between revisions
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Revision as of 11:26, 16 August 2026
Cytochrome c oxidase deficiency myopathy presenting soon after birth with severe generalised weakness, respiratory distress, and lactic acidosis. Children with fatal infantile myopathy have a relentlessly downhill course and die of respiratory failure before 1 year of age. Although heart, liver, and brain are clinically spared, many patients have renal disease with glycosuria, phosphaturia, and generalised aminoaciduria (De Toni-Fanconi syndrome). Pedigree analysis suggests autosomal recessive transmission.
| Language | Label | Description | Also known as |
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| default for all languages | ID_2001702410 |
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| English | Mitochondrial myopathy with cytochrome C oxidase deficiency, severe infantile form |
Cytochrome c oxidase deficiency myopathy presenting soon after birth with severe generalised weakness, respiratory distress, and lactic acidosis. Children with fatal infantile myopathy have a relentlessly downhill course and die of respiratory failure before 1 year of age. Although heart, liver, and brain are clinically spared, many patients have renal disease with glycosuria, phosphaturia, and generalised aminoaciduria (De Toni-Fanconi syndrome). Pedigree analysis suggests autosomal recessive transmission. |
