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

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....

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Publicat a:Orphanet J Rare Dis
Autors principals: Verhaak, Christianne, de Laat, Paul, Koene, Saskia, Tibosch, Marijke, Rodenburg, Richard, de Groot, Imelda, Knoop, Hans, Janssen, Mirian, Smeitink, Jan
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2016
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4797235/
https://ncbi.nlm.nih.gov/pubmed/26988355
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0403-5
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