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Article

Quality of life, fatigue and mental health in patients with the m.3243A > G mutation and its correlates with genetic characteristics and disease manifestation.

Orphanet journal of rare diseases - 18 Mar 2016

Verhaak Christianne, de Laat Paul, Koene Saskia, Tibosch Marijke, Rodenburg Richard, de Groot Imelda, Knoop Hans, Janssen Mirian, Smeitink Jan

Abstract excerpt

BACKGROUND: Mitochondrial disorders belong to the most prevalent inherited metabolic diseases with the m.3243A > G mutation reflecting being one of the most common mutations in mitochondrial DNA. Previous studies showed little relationship between mitochondrial genetics and disease manifestation. Relationship between genotype and disease manifestation with patient reported quality of life and other patient...

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Identifiers

PMID: 26988355
DOI: 10.1186/s13023-016-0403-5
PMCID: PMC4797235

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