TY - JOUR T1 - Fatal infantile mitochondrial myopathy due to cytochrome c oxidase deficiency. AU - Minchom,P E, AU - Dormer,R L, AU - Hughes,I A, AU - Stansbie,D, AU - Cross,A R, AU - Hendry,G A, AU - Jones,O T, AU - Johnson,M A, AU - Sherratt,H S, AU - Turnbull,D M, PY - 1983/8/1/pubmed PY - 1983/8/1/medline PY - 1983/8/1/entrez SP - 453 EP - 63 JF - Journal of the neurological sciences JO - J Neurol Sci VL - 60 IS - 3 N2 - A case of cytochrome c oxidase deficiency primarily affecting skeletal muscle is described. The child was admitted at 4 weeks due to failure to thrive and examination at that time revealed weakness and hypotonia. His condition deteriorated until at 11 weeks respiratory arrest necessitated artificial ventilation and death occurred at 14 weeks. Biochemical investigation showed lactic acidaemia and generalised aminoaciduria. Histochemical examination of muscle obtained at biopsy showed strong reactions for some oxidative enzymes, but by contrast cytochrome c oxidase could not be detected. Cytochrome c oxidase activity was less than 5% of control values in an extract of fresh muscle. The reduced-minus oxidised absorption spectra of muscle mitochondrial fractions prepared from post-mortem tissue showed an absence of cytochrome aa3 and a partial deficiency of cytochrome b. Ultra-structural examination showed abnormal mitochondria with loss of cristae and an abnormal granular matrix. The family history suggests autosomal recessive inheritance. SN - 0022-510X UR - https://www.unboundmedicine.com/medline/citation/6313867/Fatal_infantile_mitochondrial_myopathy_due_to_cytochrome_c_oxidase_deficiency_ L2 - https://linkinghub.elsevier.com/retrieve/pii/0022-510X(83)90156-9 DB - PRIME DP - Unbound Medicine ER -