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Korotkova D.G.

South Ural State Medical University

Karpova M.I.

South Ural State Medical University

Galiulina K.Yu.

BESTDOCTOR LLC

Vasilenko A.F.

South Ural State Medical University

Shestakova M.V.

South Ural State Medical University

Kashko T.N.

Chelyabinsk Regional Children’s Clinical Hospital

Buyanova G.V.

Chelyabinsk Regional Children’s Clinical Hospital

A case of Becker muscular dystrophy in a woman with skewed X-chromosome inactivation

Authors:

Korotkova D.G., Karpova M.I., Galiulina K.Yu., Vasilenko A.F., Shestakova M.V., Kashko T.N., Buyanova G.V.

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Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2025;125(1): 139‑144

DOI: 10.17116/jnevro2025125011139

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A CASE OF BECKER MUSCULAR DYSTROPHY IN A WOMAN WITH SKEWED X-CHROMOSOME INACTIVATION
A CASE OF BECKER MUSCULAR DYSTROPHY IN A WOMAN WITH SKEWED X-CHROMOSOME INACTIVATION

To cite this article:

Korotkova DG, Karpova MI, Galiulina KYu, Vasilenko AF, Shestakova MV, Kashko TN, Buyanova GV. A case of Becker muscular dystrophy in a woman with skewed X-chromosome inactivation. S.S. Korsakov Journal of Neurology and Psychiatry. 2025;125(1):139‑144. (In Russ.)
https://doi.org/10.17116/jnevro2025125011139

Подписка 2025-2 (S.S. Korsakov Journal of Neurology and Psychiatry)
 
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The article presents a rare case of Becker muscular dystrophy symptoms development in a female patient manifested by weakness in the muscles of the lower limbs in youth. The diagnosis was established based on clinical symptoms, molecular-genetic testing, electromyography data, magnetic resonance imaging of the lower limb muscles, and blood creatine phosphokinase activity. DNA analysis using the next-generation sequencing «Large neurological panel» (Genomed laboratory, Moscow) yielded data supporting the presence of a deletion of the X chromosome segment with approximate boundaries 31323344—32809866 and a size of 1.486.522 bp, encompassing regions of the OMIM-annotated DMD gene. Multiplex ligation-dependent probe amplification (MLPA) using commercial kits SALSA MLPA Probemix P034-DMDI and P035-DMD2 (MRC-Holland) was performed to search for deletions/duplications of exons 1—79 of the DMD gene. As a result of the analysis, a deletion of exons 7—62 of the DMD gene in a heterozygous state was identified. Thus, the presence of the deletion was confirmed by the reference method. DNA analysis was conducted to detect skewed X-chromosome inactivation. The results show an 87%:13% ratio, indicating skewed (non-random) X-chromosome inactivation (repeats count 24/26).

Keywords:

Becker muscular dystrophy
women
X-inactivation

Authors:

Korotkova D.G.

South Ural State Medical University

Karpova M.I.

South Ural State Medical University

Galiulina K.Yu.

BESTDOCTOR LLC

Vasilenko A.F.

South Ural State Medical University

Shestakova M.V.

South Ural State Medical University

Kashko T.N.

Chelyabinsk Regional Children’s Clinical Hospital

Buyanova G.V.

Chelyabinsk Regional Children’s Clinical Hospital

Received:

03.09.2024

Accepted:

20.09.2024

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