Rui Guerreiro

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José Pinto Marques1
Marisa Brum1
Cristina Semedo1
1José Pinto Marques
1Marisa Brum
1Cristina Semedo
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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 history of mitochondrial disease, presented with cognitive(More)
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