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Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?

Leigh syndrome (LS), subacute necrotizing encephalomyelopathy is caused by various genetic defects, including m.9185T>C MTATP6 variant. Mechanism of LS development remains unknown. We report on the acid-base status of three patients with m.9185T>C related LS. At the onset, it showed respirator...

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Detalles Bibliográficos
Autores principales:	Piekutowska-Abramczuk, Dorota, Rutyna, Rafał, Czyżyk, Elżbieta, Jurkiewicz, Elżbieta, Iwanicka-Pronicka, Katarzyna, Rokicki, Dariusz, Stachowicz, Sylwia, Strzemecka, Joanna, Guz, Wiesław, Gawroński, Michał, Kosierb, Aneta, Ligas, Joanna, Puchala, Mateusz, Drelich-Zbroja, Anna, Bednarska-Makaruk, Małgorzata, Dąbrowski, Wojciech, Ciara, Elżbieta, Książyk, Janusz B., Pronicka, Ewa
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer US 2017
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5769826/ https://www.ncbi.nlm.nih.gov/pubmed/29116603 http://dx.doi.org/10.1007/s11011-017-0122-1

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