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Motor Neuron Syndrome as a New Phenotypic Manifestation of Mutation 9185T>C in Gene MTATP6

Background. The mutation 9185T>C in ATP6 gene, associated with Leigh syndrome, was reported in only few families. Motor neuron disease (MND), both clinically and electrophysiologically, was not previously described in association with this mutation. Case Report. 33-year-old male, with family hist...

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Detalhes bibliográficos
Publicado no:Case Rep Neurol Med
Main Authors: Brum, Marisa, Semedo, Cristina, Guerreiro, Rui, Pinto Marques, José
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2014
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4274829/
https://ncbi.nlm.nih.gov/pubmed/25548692
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2014/701761
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