Article
The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.
Brain : a journal of neurology - 1 Jun 1993
Hammans S R, Sweeney M G, Brockington M, Lennox G G, Lawton N F, Kennedy C R, Morgan-Hughes J A, Harding A E
Abstract excerpt
The mitochondrial DNA (mtDNA) transfer RNA (tRNA)Lys A-->G(8344) mutation was identified in seven patients. These patients and their relatives were assessed clinically; in one family the mutation was deduced to be present in four generations. The phenotype in index cases was consistent with the syndrome of myoclonic epilepsy with ragged red fibres, with the core clinical features of myoclonus, ataxia and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.