Article
Absence of maternal A3243G mtDNA mutation and reversible hyperglycemia in a patient with MELAS syndrome.
Acta neurologica Scandinavica - 1 Jan 2000
Liou C W, Huang C C, Tsai J L, Liu J Y, Pang C Y, Lee H C, Wang E K, Wei Y H
Abstract excerpt
We report the unusual features of a female patient who had MELAS-specific A3243G mutation in mitochondrial DNA (mtDNA) and diabetes mellitus (DM). The patient showed mitochondrial myopathy, encephalopathy, lactic acidosis, and deafness but lacked the stroke-like episode. Acute hyperglycemia was noted after one attack of status epilepticus. Molecular genetic analysis demonstrated a heteroplasmic A3243G point...
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