Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA)

Detailed clinical, neuroradiological, histological, biochemical, and genetic investigations were undertaken in a child suffering from Leigh syndrome. The clinical symptoms started at age five months and led to a severe progressive neurodegenerative disorder causing epilepsy, psychomotor retardation,...

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Detalhes bibliográficos
Main Authors: Horváth, R, Abicht, A, Holinski‐Feder, E, Laner, A, Gempel, K, Prokisch, H, Lochmüller, H, Klopstock, T, Jaksch, M
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2006
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Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2117401/
https://ncbi.nlm.nih.gov/pubmed/16361598
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp.2005.067041
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