Simultaneous A8344G heteroplasmy and mitochondrial DNA copy number quantification in Myoclonus Epilepsy and Ragged-Red Fibers (MERRF) syndrome by a multiplex Molecular Beacon based real-time fluorescence PCR

The association of a particular mitochondrial DNA (mtDNA) mutation with different clinical phenotypes is a well-known feature of mitochondrial diseases. A simple genotype–phenotype correlation has not been found between mutation load and disease expression. Tissue and intercellular mosaicism as well...

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Detalhes bibliográficos

Publicado no:	Nucleic Acids Res
Principais autores:	Szuhai, Károly, Ouweland, Jody M. van den, Dirks, Roeland W., Lemaître, Marc, Truffert, Jean-Christophe, Janssen, George M., Tanke, Hans J., Holme, Elisabeth, Maassen, J. Antonie, Raap, Anton K.
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Oxford University Press 2001
Assuntos:	NAR Methods Online
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC30414/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/11160915/ https://ncbi.nlm.nih.govhttps://doi.org/10.1093/nar/29.3.e13
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