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Article

The Study of the Inheritance Mechanisms of Myotonic Dystrophy Type 1 (DM1) in Families from the Republic of North Ossetia-Alania.

International journal of molecular sciences - 9 Sept 2024

Ionova Sofya A, Murtazina Aysylu F, Marakhonov Andrey A, Shchagina Olga A, Ryadninskaya Nina V, Tebieva Inna S, Kadyshev Vitaly V, Borovikov Artem O, Ginter Evgeny K, Kutsev Sergey I, Zinchenko Rena A

Abstract excerpt

Myotonic dystrophy type 1 (DM1) is a multisystem disorder with progressive myopathy and myotonia. The clinical study was conducted in the Republic of North Ossetia-Alania (RNOA), and in it 39 individuals from 17 unrelated families were identified with DM1. Clinical presentations varied, including muscle weakness, fatigue, intellectual disability, hypersomnia, ophthalmological abnormalities, and alopecia. Using...

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Identifiers

PMID: 39273681
DOI: 10.3390/ijms25179734
PMCID: PMC11395446

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