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Vasilenko A.F.
South Ural State Medical University
A case of Becker muscular dystrophy in a woman with skewed X-chromosome inactivation
Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2025;125(1): 139‑144
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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
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:
Authors:
Vasilenko A.F.
South Ural State Medical University
Received:
03.09.2024
Accepted:
20.09.2024
List of references:
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