[Mitochondrial disease due to the deficit of Q-cytochrome C oxidoreductase coenzyme in the respiratory chain. Report of a new case].
Reference has been made in the literature of the variability in the clinical presentation of deficiency of complex III of the respiratory chain, identifying up to the moment, four groups, the first of which is characterized by hipotonia and wearness starting at variable ages. We report a new case of mitochondrial myopathy due to deficiency of this complex and included within this first group, and consider the importance of defining the clinical and histochemical characteristics of this polymorphous entity.
Hospital Universitario Virgen de la Macarena. Dpto. de Pediatría, Sevilla.
S
S
Roldán
M D
MD
Lluch
F J
FJ
Navarro Quesada
A
A
Hevia
D001706:Biopsy; D002648:Child; D014450:Electron Transport Complex III / Q000172:deficiency* / Q000378:metabolism; D006801:Humans; D008297:Male; D017240:Mitochondrial Myopathies / Q000150:complications* / Q000201:enzymology*; D009132:Muscles / Q000737:chemistry
D014450:Electron Transport Complex III
Enfermedad mitocondrial por déficit del coenzima Q-citocromo-C-óxido reductasa de la cadena respiratoria. Aportación de un nuevo caso.