Article
Maternally inherited deafness and unusual phenotypic manifestations associated with A3243G mitochondrial DNA mutation.
Pathology oncology research : POR - 1 Jan 2005
Komlósi Katalin, Kellermayer Richárd, Maász Anita, Havasi Viktória, Hollódy Katalin, Vincze Olga, Merkli Hajnalka, Pál Endre, Melegh Béla
Abstract excerpt
The mitochondrial DNA A3243G transition is a fairly common mutation which often associates with a MELAS (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) phenotype, however, a broad variety in the associated clinical picture has also been described. The patient reported here developed a generalized seizure at age 12, which was followed by bilateral hearing loss and occasional fatigue....
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