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面肩肱型肌营养不良症是常染色体显性遗传肌肉病，临床表现变异很大。 ９８％以上患者的致病基因定位于４ｑ３５（ＦＳＨＤ－１Ａ），存在遗传异质性。已发现ＦＳＨＤ－１Ａ患者４ｑ３５上３．３ｋｂ串联重复序列拷贝数呈不同整数倍缺失，以及以Ｐ１３Ｅ－１１为探针探测ＥｃｏＲＩ／ＢｌｎＩ双重消化的ＤＮＡ片段，患者通常为１０－３４ｋｂ，而正常人通常为５０－３２０ｋｂ，从而建立起有效的分子生物学诊断方法。
Facial and shoulder humerus muscular dystrophy is an autosomal dominant muscle myopathy, clinical manifestations vary greatly. More than 98% of patients with pathogenic genes located in 4q35 (FSHD-1A), there is genetic heterogeneity. A copy number of 3.3kb tandem repeat on 4q35 in FSHD-1A patients has been found to be an integer multiple of deletions and a DNA fragment of EcoRI / BlnI double digestion using P13E-11 as a probe typically ranges from 10 to 34 kb in patients with normal individuals Usually 50-320kb, to establish an effective molecular diagnosis of molecular methods.