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

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

Ngôn ngữ: eng

Ký hiệu phân loại: 149.2 Realism

Thông tin xuất bản: Russia (Federation) : Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 55462

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
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