Benign mitochondrial encephalomyopathy in a patient with complex I deficiency

Journal of Inherited Metabolic Disease

Volumn 19, Issue 2, 1996, Pages 149-152

  Trijbels, J M F ^a   Ruttenbeek, W ^a   Senders, R C A ^a   Janssen, A J M ^a   Van Oost, B A ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; LACTIC ACID; PYRUVIC ACID; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

BIOCHEMISTRY; CASE REPORT; CLINICAL FEATURE; CONFERENCE PAPER; ENCEPHALOMYOPATHY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FAILURE TO THRIVE; FEMALE; HUMAN; INFANT; LABORATORY DIAGNOSIS; LACTATE BLOOD LEVEL; MUSCLE BIOPSY; MUSCLE HYPOTONIA; NEWBORN; QUADRICEPS FEMORIS MUSCLE; RESPIRATORY CHAIN;

CONSANGUINITY; FEMALE; HUMANS; INFANT, NEWBORN; MITOCHONDRIAL ENCEPHALOMYOPATHIES; NAD(P)H DEHYDROGENASE (QUINONE);

EID: 0029984559     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01799416     Document Type: Conference Paper

References (8)

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2. DiMauro S, Nicholson JF, Hays A, et al (1983) Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency. Ann Neurol 14: 226-234.
3. Fischer JC, Ruitenbeek W, Gabreëls FJM, et al (1986) Mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q. Eur J Pediatr 144: 441-444.
4. Salo MK, Rapola J, Somer H, et al (1992) Reversible mitochondrial myopathy with cytochrome c oxidase deficiency. Arch Dis Child 67: 1033-1035.
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6. Sperl W, Ruitenbeek W, Kerkhof CMC, et al (1990) Deficiency of α and β subunits of pyruvate dehydrogenase complex in a patient with lactic acidosis and unexpected sudden death. Eur J Pediatr 149: 487-492.
7. Taylor RW, Birch-Machin MA, Bartlett K, Turnbull DM (1993) Succinate-cytochrome c reductase: assessment of its value in the investigation of defects of the respiratory chain. Biochim Biophys Acta 1181: 261-265.
8. Zeviani M, Petersen P, Servidei S, Bonilla E, DiMauro S (1987) Benign reversible muscle cytochrome c oxidase deficiency - a second case. Neurology 37: 64-67.