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Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: immunological studies in a new patient.
Ann Neurol. 1985 Apr; 17(4):414-7.AN

Abstract

A 3-month-old female infant had profound generalized weakness, de Toni-Fanconi-Debre syndrome, and lactic acidosis. She required assisted ventilation and died at the age of 8 months. Muscle biopsy showed accumulation of mitochondria, glycogen, and lipid droplets. Histochemical reaction and immunocytochemical stain for cytochrome c oxidase showed very weak results, but both reactions were normal in intrafusal fibers of the muscle spindle. In crude extracts of the patient's muscle, cytochrome c oxidase activity was undetectable and enzyme-linked immunosorbent assay showed decreased reaction at all dilutions of antiserum. These data indicate that the amount of immunoreactive enzyme protein is markedly decreased in muscle of patients with fatal infantile cytochrome c oxidase deficiency and renal dysfunction.

Authors

No affiliation info availableNo affiliation info availableNo 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

2988412

Citation

Zeviani, M, et al. "Fatal Infantile Mitochondrial Myopathy and Renal Dysfunction Caused By Cytochrome C Oxidase Deficiency: Immunological Studies in a New Patient." Annals of Neurology, vol. 17, no. 4, 1985, pp. 414-7.
Zeviani M, Nonaka I, Bonilla E, et al. Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: immunological studies in a new patient. Ann Neurol. 1985;17(4):414-7.
Zeviani, M., Nonaka, I., Bonilla, E., Okino, E., Moggio, M., Jones, S., & DiMauro, S. (1985). Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: immunological studies in a new patient. Annals of Neurology, 17(4), 414-7.
Zeviani M, et al. Fatal Infantile Mitochondrial Myopathy and Renal Dysfunction Caused By Cytochrome C Oxidase Deficiency: Immunological Studies in a New Patient. Ann Neurol. 1985;17(4):414-7. PubMed PMID: 2988412.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: immunological studies in a new patient. AU - Zeviani,M, AU - Nonaka,I, AU - Bonilla,E, AU - Okino,E, AU - Moggio,M, AU - Jones,S, AU - DiMauro,S, PY - 1985/4/1/pubmed PY - 1985/4/1/medline PY - 1985/4/1/entrez SP - 414 EP - 7 JF - Annals of neurology JO - Ann Neurol VL - 17 IS - 4 N2 - A 3-month-old female infant had profound generalized weakness, de Toni-Fanconi-Debre syndrome, and lactic acidosis. She required assisted ventilation and died at the age of 8 months. Muscle biopsy showed accumulation of mitochondria, glycogen, and lipid droplets. Histochemical reaction and immunocytochemical stain for cytochrome c oxidase showed very weak results, but both reactions were normal in intrafusal fibers of the muscle spindle. In crude extracts of the patient's muscle, cytochrome c oxidase activity was undetectable and enzyme-linked immunosorbent assay showed decreased reaction at all dilutions of antiserum. These data indicate that the amount of immunoreactive enzyme protein is markedly decreased in muscle of patients with fatal infantile cytochrome c oxidase deficiency and renal dysfunction. SN - 0364-5134 UR - https://www.unboundmedicine.com/medline/citation/2988412/Fatal_infantile_mitochondrial_myopathy_and_renal_dysfunction_caused_by_cytochrome_c_oxidase_deficiency:_immunological_studies_in_a_new_patient_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0364-5134&date=1985&volume=17&issue=4&spage=414 DB - PRIME DP - Unbound Medicine ER -