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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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Detalles Bibliográficos
Autores principales: Brum, Marisa, Semedo, Cristina, Guerreiro, Rui, Pinto Marques, José
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4274829/
https://www.ncbi.nlm.nih.gov/pubmed/25548692
http://dx.doi.org/10.1155/2014/701761

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