Three rare pathogenic mtDNA substitutions in LHON patients with low heteroplasmy

Krylova, TD; Sheremet, NL; Tabakov, VY; Lyamzaev, KG; Itkis, YS; Tsygankova, PG; Andreeva, NA; Shmelkova, MS; Nevinitsyna, TA; Kadyshev, VV; Zakharova, EY

Krylova, TD (corresponding author), FSBI Res Ctr Med Genet, Dept Inborn Errors Metab, Moscow, Russia.

MITOCHONDRION, 2020; 50 (): 139

Abstract

In this article we present clinical, molecular and biochemical investigations of three patients with LHON caused by rare point substitutions in mtDNA.......

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