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Pubmed ID :28187756
Publication Date : //

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


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.

Authors : Soini Heidi K , Väisänen Antti , Kärppä Mikko , Hinttala Reetta , Kytövuori Laura , Moilanen Jukka S , Uusimaa Johanna , Majamaa Kari ,

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