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Article

Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society - 1 Jan 2000

Martín-Hernández Elena, García-Silva María Teresa, Quijada-Fraile Pilar, Rodríguez-García María Elena, Rivera Henry, Hernández-Laín Aurelio, Coca-Robinot David, Fernández-Toral Joaquín, Arenas Joaquín, Martín Miguel A, Martínez-Azorín Francisco

Abstract excerpt

Whole-exome sequencing was used to identify the disease gene(s) in a Spanish girl with failure to thrive, muscle weakness, mild facial weakness, elevated creatine kinase, deficiency of mitochondrial complex III and depletion of mtDNA. With whole-exome sequencing data, it was possible to get the whole mtDNA sequencing and discard any pathogenic variant in this genome. The analysis of whole exome uncovered a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 28812460
DOI: 10.1177/1093526616686439

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