Mutation m.3395A > G in MT-ND1 leads to variable pathologic manifestations

Abstract A non-synonymous mtDNA mutation, m.3395A > G, which changes tyrosine in position 30 to cysteine in p.MT-ND1, was found in several patients with a wide range of clinical phenotypes such as deafness, diabetes and cerebellar syndrome but no Leber’s hereditary optic neuropathy. Although this...

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Veröffentlicht in:	Human molecular genetics 2020-04, Vol.29 (6), p.980-989
Hauptverfasser:	Gutiérrez Cortés, Nicolás, Pertuiset, Claire, Dumon, Elodie, Börlin, Marine, Da Costa, Barbara, Le Guédard, Marina, Stojkovic, Tanya, Loundon, Natalie, Rouillon, Isabelle, Nadjar, Yann, Letellier, Thierry, Jonard, Laurence, Marlin, Sandrine, Rocher, Christophe
Format:	Artikel
Sprache:	eng
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