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Article

Revisiting mitochondrial diagnostic criteria in the new era of genomics.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2018

Witters Peter, Saada Ann, Honzik Tomas, Tesarova Marketa, Kleinle Stephanie, Horvath Rita, Goldstein Amy, Morava Eva

Abstract excerpt

PurposeDiagnosing primary mitochondrial diseases (MDs) is challenging in clinical practice. The mitochondrial disease criteria (MDC) have been developed to quantify the clinical picture and evaluate the probability of an underlying MD and the need for a muscle biopsy. In this new genetic era with next-generation sequencing in routine practice, we aim to validate the diagnostic value of MDC.MethodsWe...

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PMID: 29261183
DOI: 10.1038/gim.2017.125

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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