Detection of Common Disease-Causing Mutations in Mitochondrial DNA (Mitochondrial Encephalomyopathy, Lactic Acidosis with Stroke-Like Episodes MTTL1 3243 A>G and Myoclonic Epilepsy Associated with Ragged-Red Fibers MTTK 8344A>G) by Real-Time Polymerase Chain Reaction

The 3243A>G mutation in the MTTL1 (tRNA(Leu)) gene and the 8344A>G mutation in the MTTK (tRNA(Lys)) gene are the most common mutations found in mitochondrial encephalomyopathy, lactic acidosis with stroke-like episodes and myoclonic epilepsy associated with ragged-red fibers, respectively. The...

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Detalhes bibliográficos
Main Authors: Fan, Hongxin, Civalier, Chris, Booker, Jessica K., Gulley, Margaret L., Prior, Thomas W., Farber, Rosann A.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Investigative Pathology 2006
Assuntos:
Regular Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1867587/
https://ncbi.nlm.nih.gov/pubmed/16645216
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/jmoldx.2006.050066
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