Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy that mainly affects skeletal muscle. FSHD1 accounts for 95% of all FSHD cases and can be diagnosed based on the pathogenic contraction of the D4Z4-repeat array on chromosome 4q35. Genetic diagnosis of FSHD1 is challenging because of the large size and repetitive nature of the D4Z4 region. We evaluated the clinical applicability of optical genome mapping (OGM) for the genetic diagnosis of FSHD1.

中文翻译：

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光学基因组图谱在面肩肱型肌营养不良症分子诊断中的临床应用。


面肩肱型肌营养不良症（FSHD）是一种常见的肌营养不良症，主要影响骨骼肌。 FSHD1 占所有 FSHD 病例的 95%，可以根据染色体 4q35 上 D4Z4 重复序列的致病性收缩进行诊断。由于 D4Z4 区域较大且具有重复性，因此 FSHD1 的基因诊断具有挑战性。我们评估了光学基因组作图（OGM）对于 FSHD1 基因诊断的临床适用性。