Heteroplasmy and Copy Number in the Common m.3243A>G Mutation—A Post-Mortem Genotype–Phenotype Analysis

Different mitochondrial DNA (mtDNA) mutations have been identified to cause mitochondrial encephalopathy, lactate acidosis and stroke-like episodes (MELAS). The underlying genetic cause leading to an enormous clinical heterogeneity associated with m.3243A>G-related mitochondrial diseases is still...

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Detalles Bibliográficos
Autores principales: Motlagh Scholle, Leila, Zierz, Stephan, Mawrin, Christian, Wickenhauser, Claudia, Lehmann Urban, Diana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073558/
https://www.ncbi.nlm.nih.gov/pubmed/32085658
http://dx.doi.org/10.3390/genes11020212

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073558/
https://www.ncbi.nlm.nih.gov/pubmed/32085658
http://dx.doi.org/10.3390/genes11020212

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