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Deficiency of cytochromes b and aa3in muscle from a floppy infant with cytochrome oxidase deficiency

✍ Scribed by R. C. A. Sengers; J. M. F. Trijbels; J. A. J. M. Bakkeren; W. Ruitenbeek; J. C. Fischer; A. J. M. Janssen; A. M. Stadhouders; H. J. Laak

Publisher: Springer
Year: 1984
Tongue: English
Weight: 986 KB
Volume: 141
Category: Article
ISSN: 0340-6997
DOI: 10.1007/bf00443221

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✦ Synopsis

A girl was presented suffering from generalised weakness and cardiorespiratory insufficiency. She succumbed at the age of 5 months. Lactate levels were elevated in serum, cerebrospinal fluid and urine. Histopathological examination revealed a mitochondrial myopathy. In muscle tissue the cytochrome oxydase activity was strongly reduced. The content of cytochromes b and aa3 was very low. At autopsy a cardiomyopathy was found.

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