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Clinical, biochemical, molecular, and histological features of 65 Portuguese pa...
Cruz, Simão; Taipa, Ricardo; Nogueira, Célia; Pereira, Cristina; Almeida, Lígia S.; Neiva, Raquel; Geraldes, Tiago; Guimarães, AntónioIntroduction: 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...
Clinical Severity of PGK1 Deficiency Due To a Novel p.E120K Substitution Is Exa...
David, Dezső; Almeida, Lígia S.; Maggi, Maristella; Carlos, Araújo; Imreh, Stefan; Valentini, Giovanna; Fekete, Gyorgy; Haltrich, IrénCarriers of cytogenetically similar, apparentlybalanced familial chromosome translocations not alwaysexhibit the putative translocation-associated disease phenotype.Additional genetic defects, such as genomic imbalanceat breakpoint regions or elsewhere in the genome,have been reported as the most plausible explanation.By means of comprehensive molecular and functionalanalyses, additional to careful dissection o...