Article
Mitochondrial DNA mutations in epilepsy and neurological disease.
Epilepsia - 1 Jan 1994
Wallace D C, Lott M T, Shoffner J M, Ballinger S
Abstract excerpt
Recent discoveries in mitochondrial clinical genetics have revealed that a broad spectrum of clinical phenotypes are associated with mutations in mitochondrial DNA. Diseases caused by mutations in mitochondrial DNA are by nature quantitative. Myoclonic epilepsy and ragged-red fiber disease are caused by a mutation in the transfer RNA gene lysine. Although everyone in a maternal lineage will harbor the same...
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