Deficiency of Cytochromes B and Aa3 in Muscle from a Floppy Infant with Cytochrome Oxidase Deficiency

Overview

Journal Eur J Pediatr

Specialty Pediatrics

Date 1984 Jan 1

PMID 6321192

Citations 18

Authors

R C Sengers

J M Trijbels

J A BAKKEREN

W Ruitenbeek

J C Fischer

A J Janssen

A M STADHOUDERS

H J ter Laak

Affiliations

Soon will be listed here.

Abstract

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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