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Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency.
Ann Neurol. 1983 Aug; 14(2):226-34.AN

Abstract

A 2-week-old boy had profound generalized weakness, hypotonia, hyporeflexia, macroglossia, and severe lactic acidosis. The infant improved spontaneously: he held his head at 4 1/2 months, rolled over at 7 months, and walked by 16 months. At 33 months of age, he had mild proximal weakness. Macroglossia disappeared by age 4 months. Blood lactic acid declined steadily and was normal by 14 months of age. Histochemical and ultrastructural studies of muscle biopsy specimens obtained at 1 and 7 months of age showed excessive mitochondria, lipid, and glycogen; a third biopsy at age 36 months showed only atrophy of scattered fibers. Cytochrome c oxidase stain was positive in fewer than 5% of fibers in the first biopsy, in approximately 60% of fibers in the second biopsy, and in all fibers in the third biopsy. Biochemical analysis showed an isolated defect of cytochrome c oxidase activity, which was only 8% of the lowest control level in the first biopsy; the activity increased to 47% in the second biopsy and was higher than normal in the third. In contrast to that in the fatal infantile form of cytochrome c oxidase deficiency, the enzyme defect in this condition is reversible. The biochemical basis for this difference remains to be explained.

Authors

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Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

6312869

Citation

DiMauro, S, et al. "Benign Infantile Mitochondrial Myopathy Due to Reversible Cytochrome C Oxidase Deficiency." Annals of Neurology, vol. 14, no. 2, 1983, pp. 226-34.
DiMauro S, Nicholson JF, Hays AP, et al. Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency. Ann Neurol. 1983;14(2):226-34.
DiMauro, S., Nicholson, J. F., Hays, A. P., Eastwood, A. B., Papadimitriou, A., Koenigsberger, R., & DeVivo, D. C. (1983). Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency. Annals of Neurology, 14(2), 226-34.
DiMauro S, et al. Benign Infantile Mitochondrial Myopathy Due to Reversible Cytochrome C Oxidase Deficiency. Ann Neurol. 1983;14(2):226-34. PubMed PMID: 6312869.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency. AU - DiMauro,S, AU - Nicholson,J F, AU - Hays,A P, AU - Eastwood,A B, AU - Papadimitriou,A, AU - Koenigsberger,R, AU - DeVivo,D C, PY - 1983/8/1/pubmed PY - 1983/8/1/medline PY - 1983/8/1/entrez SP - 226 EP - 34 JF - Annals of neurology JO - Ann Neurol VL - 14 IS - 2 N2 - A 2-week-old boy had profound generalized weakness, hypotonia, hyporeflexia, macroglossia, and severe lactic acidosis. The infant improved spontaneously: he held his head at 4 1/2 months, rolled over at 7 months, and walked by 16 months. At 33 months of age, he had mild proximal weakness. Macroglossia disappeared by age 4 months. Blood lactic acid declined steadily and was normal by 14 months of age. Histochemical and ultrastructural studies of muscle biopsy specimens obtained at 1 and 7 months of age showed excessive mitochondria, lipid, and glycogen; a third biopsy at age 36 months showed only atrophy of scattered fibers. Cytochrome c oxidase stain was positive in fewer than 5% of fibers in the first biopsy, in approximately 60% of fibers in the second biopsy, and in all fibers in the third biopsy. Biochemical analysis showed an isolated defect of cytochrome c oxidase activity, which was only 8% of the lowest control level in the first biopsy; the activity increased to 47% in the second biopsy and was higher than normal in the third. In contrast to that in the fatal infantile form of cytochrome c oxidase deficiency, the enzyme defect in this condition is reversible. The biochemical basis for this difference remains to be explained. SN - 0364-5134 UR - https://www.unboundmedicine.com/medline/citation/6312869/Benign_infantile_mitochondrial_myopathy_due_to_reversible_cytochrome_c_oxidase_deficiency_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0364-5134&date=1983&volume=14&issue=2&spage=226 DB - PRIME DP - Unbound Medicine ER -