Article
Mitochondrial encephalopathies and myopathies: Our tertiary center's experience.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2024
Ozlu Can, Messahel Souad, Minassian Berge, Kayani Saima
Abstract excerpt
Mitochondrial diseases have a heterogeneous phenotype and can result from mutations in the mitochondrial or nuclear genomes, constituting a diagnostically and therapeutically challenging group of disorders. We report our center's experience with mitochondrial encephalopathies and myopathies with a cohort of 50 genetically and phenotypically diverse patients followed in the Neurology clinic over the last ten...
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