A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease

BACKGROUND: Mitochondrial diseases present with variable multi-organ symptoms. Common disease-causing mutations in mitochondrial DNA (mtDNA) are regularly screened in diagnostic work-up, but novel mutations may remain unnoticed. METHODS: Patients (N = 66) with a clinical suspicion of mitochondrial d...

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Udgivet i:BMC Med Genet
Main Authors: Soini, Heidi K., Väisänen, Antti, Kärppä, Mikko, Hinttala, Reetta, Kytövuori, Laura, Moilanen, Jukka S., Uusimaa, Johanna, Majamaa, Kari
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2017
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5303298/
https://ncbi.nlm.nih.gov/pubmed/28187756
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0377-8
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