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...

Descripción completa

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

Internet

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

Ejemplares similares