"Mitochondrial myopathy" or mitochondrial disease? EEG, ERG, VEP studies in 13 children.

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"Mitochondrial myopathy" or mitochondrial disease? EEG, ERG, VEP studies in 13 children.

Neurophysiological investigations (EEG, ERG, VEP) were carried out in 13 patients with proven "mitochondrial myopathy". There were nine girls and four boys. Varied abnormalities were seen in the EEGs of all cases, and in one patient unusual repetitive bursts of irregular slow waves and spikes were observed. The ERG was abnormal in five of the 12 cases tested, while the VEP (flash) was definitel...

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We have generated an animal model for mitochondrial myopathy by disrupting the gene for mitochondrial transcription factor A (Tfam) in skeletal muscle of the mouse. The knockout animals developed a myopathy with ragged-red muscle fibers, accumulation of abnormally appearing mitochondria, and progressively deteriorating respiratory chain function in skeletal muscle. Enzyme histochemistry, electr...

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Mitochondrial diseases are polymorphic entities which may affect many organs and systems. Skeletal muscle involvement is frequent in the context of systemic mitochondrial disease, but adult-onset pure mitochondrial myopathy appears to be rare. We report 3 patients with progressive skeletal mitochondrial myopathy starting in adult age. In all cases, the proximal myopathy was the only clinical fe...

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ژورنال

عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry

سال: 1982

ISSN: 0022-3050

DOI: 10.1136/jnnp.45.7.627