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Clinical, pathological, and genetic characteristics of 23 DMD patients in northern China

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Retrospective review identifies clinical and genetic features of DMD in northern China, suggesting diagnosis indicators.

This study aims to summarize the clinical, pathological, and genetic characteristics of DMD patients in northern China.
Retrospective review of 23 DMD patients from 2014 to 2022
Analysis of clinical data, laboratory findings, and genetic testing
Assessments included muscle pathology, ECG, and electromyography
Age at onset was between 0.5 and 7.5 years, primarily 3.5 to 6.0 years
21 patients showed bilateral lower-limb weakness and exercise intolerance
Genetic testing revealed 15 deletions, 5 duplications, and 3 mutations, including a novel variant

Bu et al. (2026) studied this question.

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