Mitochondrial myopathy with cytochrome C oxidase deficiency, severe infantile form (Q95624)

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.