Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease

AIMS: Leigh syndrome (LS) is characterised by almost identical brain changes despite considerable causal heterogeneity. SURF1 gene mutations are among the most frequent causes of LS. Although deficiency of cytochrome c oxidase (COX) is a typical feature of the muscle in SURF1-deficient LS, other abn...

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Hlavní autoři: Pronicki, M, Matyja, E, Piekutowska-Abramczuk, D, Szymańska-Dębińska, T, Karkucińska-Więckowska, A, Karczmarewicz, E, Grajkowska, W, Kmieć, T, Popowska, E, Sykut-Cegielska, J
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Publishing Group 2008
Témata:
Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2571978/
https://ncbi.nlm.nih.gov/pubmed/17908801
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jcp.2007.051060
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