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MtDNA-maintenance defects: syndromes and genes

A large group of mitochondrial disorders, ranging from early-onset pediatric encephalopathic syndromes to late-onset myopathy with chronic progressive external ophthalmoplegia (CPEOs), are inherited as Mendelian disorders characterized by disturbed mitochondrial DNA (mtDNA) maintenance. These errors...

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Detalles Bibliográficos
Autores principales:	Viscomi, Carlo, Zeviani, Massimo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Netherlands 2017
Materias:	Ssiem 2016
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5500664/ https://www.ncbi.nlm.nih.gov/pubmed/28324239 http://dx.doi.org/10.1007/s10545-017-0027-5

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