Mutation m.15923A>G in the MT-TT gene causes mild myopathy – case report of an adult-onset phenotype

Por Kärppä, Mikko, Kytövuori, Laura, Saari, Markku, Majamaa, Kari
Publicado no BMC Neurol (2018)

The m.7510T>C mutation: Hearing impairment and a complex neurologic phenotype

Por Kytövuori, Laura, Gardberg, Maria, Majamaa, Kari, Martikainen, Mika H.
Publicado no Brain Behav (2017)

Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder

Por Kytövuori, Laura, Kärppä, Mikko, Tuominen, Hannu, Uusimaa, Johanna, Saari, Markku, Hinttala, Reetta, Majamaa, Kari
Publicado no BMC Neurol (2017)

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

Por Soini, Heidi K., Väisänen, Antti, Kärppä, Mikko, Hinttala, Reetta, Kytövuori, Laura, Moilanen, Jukka S., Uusimaa, Johanna, Majamaa, Kari
Publicado no BMC Med Genet (2017)