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Clinical, biochemical, molecular, and histological features of 65 Portuguese pa...

Cruz, S; Taipa, R; Nogueira, C; Pereira, C; Almeida, S; Neiva, R; Geraldes, T; Guimarães, A; Melo-Pires, M; Vilarinho, L

INTRODUCTION: Mitochondrial disorders display remarkable genetic and phenotypic heterogeneity. METHODS: We performed a retrospective analysis of the clinical, histological, biochemical, and genetic features of 65 patients with molecular diagnoses of mitochondrial disorders. RESULTS: The most common genetic diagnosis was a single large-scale mitochondrial DNA (mtDNA) deletion (41.5%), and the most frequent clini...

Date: 2017   |   Origin: Repositório do Hospital Prof. Doutor Fernando Fonseca
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