Article
The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene.
International journal of molecular sciences - 12 Oct 2022
Ionova Sofya A, Murtazina Aysylu F, Tebieva Inna S, Getoeva Zalina K, Dadali Elena L, Chausova Polina A, Shchagina Olga A, Marakhonov Andrey V, Kutsev Sergey I, Zinchenko Rena A
Abstract excerpt
Here, we described three affected boys from two unrelated families of Ossetian-Digor origin from the Republic of North Ossetia-Alania who were admitted to the Research Centre for Medical Genetics with unspecified muscular dystrophy. High-throughput sequencing was performed and revealed two novel frameshift variants in the COL6A2 gene (NM_001849.3) in a heterozygous state each in both cases: c.508_535delinsCTGTGG...
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