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The inheritance of pathogenic mitochondrial DNA mutations

Mitochondrial DNA mutations cause disease in > 1 in 5000 of the population, and ∼ 1 in 200 of the population are asymptomatic carriers of a pathogenic mtDNA mutation. Many patients with these pathogenic mtDNA mutations present with a progressive, disabling neurological syndrome that leads to majo...

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Autors principals: Cree, L.M., Samuels, D.C., Chinnery, P.F.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier Pub. Co 2009
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2785871/
https://ncbi.nlm.nih.gov/pubmed/19303927
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbadis.2009.03.002
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