Primary mitochondrial disorders and mimics: Insights from a large French cohort
Cécile Rouzier,
Emmanuelle Pion,
Annabelle Chaussenot
et al.
Abstract:ObjectiveThe objective of this study was to evaluate the implementation of NGS within the French mitochondrial network, MitoDiag, from targeted gene panels to whole exome sequencing (WES) or whole genome sequencing (WGS) focusing on mitochondrial nuclear‐encoded genes.MethodsOver 2000 patients suspected of Primary Mitochondrial Diseases (PMD) were sequenced by either targeted gene panels, WES or WGS within MitoDiag. We described the clinical, biochemical, and molecular data of 397 genetically confirmed patient… Show more
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