Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

Childhood-onset mitochondrial encephalomyopathies are usually severe, relentlessly progressive conditions that have a fatal outcome. However, a puzzling infantile disorder, long known as ‘benign cytochrome c oxidase deficiency myopathy’ is an exception because it shows spontaneous recovery if infant...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Horvath, Rita, Kemp, John P., Tuppen, Helen A. L., Hudson, Gavin, Oldfors, Anders, Marie, Suely K. N., Moslemi, Ali-Reza, Servidei, Serenella, Holme, Elisabeth, Shanske, Sara, Kollberg, Gittan, Jayakar, Parul, Pyle, Angela, Marks, Harold M., Holinski-Feder, Elke, Scavina, Mena, Walter, Maggie C., Çoku, Jorida, Günther-Scholz, Andrea, Smith, Paul M., McFarland, Robert, Chrzanowska-Lightowlers, Zofia M. A., Lightowlers, Robert N., Hirano, Michio, Lochmüller, Hanns, Taylor, Robert W., Chinnery, Patrick F., Tulinius, Mar, DiMauro, Salvatore
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2009
Témata:
Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2768660/
https://ncbi.nlm.nih.gov/pubmed/19720722
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awp221
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky