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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...
| Autores principales: | , , , , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
BMJ Publishing Group
2008
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2571978/ https://www.ncbi.nlm.nih.gov/pubmed/17908801 http://dx.doi.org/10.1136/jcp.2007.051060 |