The frequent variant A57F in the GNE gene in patients from Russia has Finno-Ugric Mari origin

The frequent variant A57F in the GNE gene in patients from Russia has Finno-Ugric Mari origin

IntroductionGNE-myopathy is a distal myopathy with adult-onset and initial involvement of anterior leg compartment. A founder effect has been demonstrated for some patients from several large cohorts in different countries.MethodsIn this study, we investigated the allele frequency of the c.169_170de...

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Main Authors: Dmitrii Subbotin, Sofya Ionova, Andrey Marakhonov, Elena Saifullina, Artem Borovikov, Leila Akhmadeeva, Polina Chausova, Oksana Ryzhkova, Rena Zinchenko, Sergey Kutsev, Aysylu Murtazina
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-12-01
Series:Frontiers in Genetics
Subjects:
GNE
Nonaka myopathy
distal myopathy
Mari
Bashkir
frequent variant
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1511304/full
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