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Benign reversible muscle cytochrome c oxidase deficiency: a second case.
Neurology. 1987 Jan; 37(1):64-7.Neur

Abstract

A 6-week-old boy had generalized weakness, requiring assisted ventilation, and lactic acidosis. At 6 months, the lactic acidosis resolved, and the patient started to improve; assisted ventilation was discontinued at 15 months. Muscle biopsies at 4 and 11 months showed accumulation of mitochondria, lipid, and glycogen; cytochrome c oxidase (COX) activity was 11% of the lowest control in the first biopsy and 57% in the second. Immunocytochemistry and immunotitration showed presence of immunologically reactive enzyme protein in both biopsies. This case confirms a previous report of benign infantile myopathy due to reversible COX deficiency. The severe fibrosis in the second biopsy may explain the slower rate of clinical recovery in this child.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

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

3025776

Citation

Zeviani, M, et al. "Benign Reversible Muscle Cytochrome C Oxidase Deficiency: a Second Case." Neurology, vol. 37, no. 1, 1987, pp. 64-7.
Zeviani M, Peterson P, Servidei S, et al. Benign reversible muscle cytochrome c oxidase deficiency: a second case. Neurology. 1987;37(1):64-7.
Zeviani, M., Peterson, P., Servidei, S., Bonilla, E., & DiMauro, S. (1987). Benign reversible muscle cytochrome c oxidase deficiency: a second case. Neurology, 37(1), 64-7.
Zeviani M, et al. Benign Reversible Muscle Cytochrome C Oxidase Deficiency: a Second Case. Neurology. 1987;37(1):64-7. PubMed PMID: 3025776.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Benign reversible muscle cytochrome c oxidase deficiency: a second case. AU - Zeviani,M, AU - Peterson,P, AU - Servidei,S, AU - Bonilla,E, AU - DiMauro,S, PY - 1987/1/1/pubmed PY - 1987/1/1/medline PY - 1987/1/1/entrez SP - 64 EP - 7 JF - Neurology JO - Neurology VL - 37 IS - 1 N2 - A 6-week-old boy had generalized weakness, requiring assisted ventilation, and lactic acidosis. At 6 months, the lactic acidosis resolved, and the patient started to improve; assisted ventilation was discontinued at 15 months. Muscle biopsies at 4 and 11 months showed accumulation of mitochondria, lipid, and glycogen; cytochrome c oxidase (COX) activity was 11% of the lowest control in the first biopsy and 57% in the second. Immunocytochemistry and immunotitration showed presence of immunologically reactive enzyme protein in both biopsies. This case confirms a previous report of benign infantile myopathy due to reversible COX deficiency. The severe fibrosis in the second biopsy may explain the slower rate of clinical recovery in this child. SN - 0028-3878 UR - https://www.unboundmedicine.com/medline/citation/3025776/Benign_reversible_muscle_cytochrome_c_oxidase_deficiency:_a_second_case_ L2 - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=linkout&SEARCH=3025776.ui DB - PRIME DP - Unbound Medicine ER -