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Article

Specificities of the DMD Gene Mutation Spectrum in Russian Patients.

International journal of molecular sciences - 22 Oct 2022

Zinina Elena, Bulakh Maria, Chukhrova Alena, Ryzhkova Oksana, Sparber Peter, Shchagina Olga, Polyakov Aleksander, Kutsev Sergey

Abstract excerpt

Duchenne/Becker muscular dystrophy (DMD/BMD) is the most common form of muscular dystrophy, accounting for over 50% of all cases. In this regard, in Russia we carry out a program of selective screening for DMD/BMD, which mainly involves male patients. The main inclusion criteria are an increase in the level of creatine phosphokinase (>2000 U/L) or an established clinical diagnosis. At the first stage of...

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Source

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Identifiers

PMID: 36361501
DOI: 10.3390/ijms232112710
PMCID: PMC9658738

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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