Esperanza Font Montgomery

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We appreciate Dr. Finsterer et al. [1] interest in our case report [2]. They express doubts about the diagnosis of Leigh syndrome (LS). Our patient's diagnosis was based on the presence of a known ATPase 6 gene pathogenic mutation (T9176C), previously described in other LS cases [3–8] , and also in a form of hereditary spastic paraplegia [9] leukodystrophy(More)
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