Journal of Child Neurology · 2000 · 14 citations · 6 references
Life SciencesGeneticsNeurologyHuman GeneticsMitochondrial BiologyPediatric NeurologyMendelian DisordersMendelian Neurological DisordersMitochondrial DiseaseMitochondrial DisordersMitochondrial InheritanceMitochondrial Neurological DisordersAutosomal Dominant InheritanceEtiologic HypothesisMitochondrial Disease GeneticsMitochondrial Inheritance PatternsMuscle Biopsy Findings In Mitochondrial DiseaseMuscle Biopsy HistologyRespiratory Chain DysfunctionRespiratory Chain Enzymes
We present the family of two girls affected with alternating hemiplegia of childhood who were born to the same mother and different fathers. Previous reports suggested mitochondrial dysfunction as an etiologic mechanism for this disorder. Muscle biopsy, including a measurement of the respiratory chain enzymes, performed in one of the sisters showed no mitochondrial abnormalities. The mode of inheritance is not certain, but an autosomal-dominant gene is most likely.
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Alternating hemiplegia of childhood
Kenneth Silver, Frédérick Andermann · Neurology · 1993 · 85 citations
Medicine, Neurology, Pediatrics +3
A syndrome of autosomal dominant alternating hemiplegia
Mohamad A. Mikati, Helen Maguire, Charles F. Barlow et al. · Neurology · 1992 · 77 citations
Skeletal muscle mitochondrial dysfunction in alternating hemiplegia of childhood
Graham J. Kemp, D.J. Taylor, P. R. J. Barnes et al. · Annals of Neurology · 1995 · 24 citations