ATP Synthase Deficiency due to TMEM70 Mutation Leads to Ultrastructural Mitochondrial Degeneration and Is Amenable to Treatment

TMEM70 is involved in the biogenesis of mitochondrial ATP synthase and mutations in the TMEM70 gene impair oxidative phosphorylation. Herein, we report on pathology and treatment of ATP synthase deficiency in four siblings. A consanguineous family of Roma (Gipsy) ethnic origin gave birth to 6 childr...

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Detalles Bibliográficos
Autores principales: Braczynski, Anne K., Vlaho, Stefan, Müller, Klaus, Wittig, Ilka, Blank, Anna-Eva, Tews, Dominique S., Drott, Ulrich, Kleinle, Stephanie, Abicht, Angela, Horvath, Rita, Plate, Karl H., Stenzel, Werner, Goebel, Hans H., Schulze, Andreas, Harter, Patrick N., Kieslich, Matthias, Mittelbronn, Michel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4621340/
https://www.ncbi.nlm.nih.gov/pubmed/26550569
http://dx.doi.org/10.1155/2015/462592

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