Deficiency in complex IV (cytochrome c oxidase) of the respiratory chain, presenting as a leukodystrophy in two siblings with Leigh syndrome.

Zafeiriou, D I

Deficiency in complex IV (cytochrome c oxidase) of the respiratory chain, presenting as a leukodystrophy in two siblings with Leigh syndrome. [electronic resource] - Brain & development - 117-21 p. digital

Publication Type: Case Reports; Journal Article

0387-7604

10.1016/0387-7604(94)00098-i doi


Brain--diagnostic imaging
Cytochrome-c Oxidase Deficiency
Diagnosis, Differential
Female
Humans
Infant
Leigh Disease--diagnosis
Leukodystrophy, Metachromatic--diagnosis
Magnetic Resonance Imaging
Male
Muscle, Skeletal--enzymology
Sural Nerve--pathology
Tomography, X-Ray Computed