limb girdle muscular dystrophy

A novel mutation in two families with limb-girdle muscular dystrophy type 2C

两个2C型肢带型肌营养不良家族的新突变

Conclusions Clinically, Kennedy disease was easy to be misdiagnosed as polymyositis, limb-girdle muscular dystrophy, even Charcot-Marie-Tooth disease. AR gene testing is the most reliable diagnosing method.

结论临床上Kennedy病多被误诊为多发性肌炎、肢带型肌营养不良，甚至Charcot-Marie-Tooth病等，AR基因检测是诊断本病最可靠的方法。

Objective To explore the value of immunofluorescent technique for clinical diagnosing Duchenne muscular dystrophy ( DMD), Becker muscular dystrophy ( BMD) and Limb-girdle muscular dystrophy ( LGMD).

目的探讨免疫荧光检测对Duchenne型、Becker型和肢带型肌营养不良症（DMD、BMD和LG-MD）临床诊断的价值。

Objective To study the clinic and pathological features of 4 cases of lipid storage myopathy ( LSM) and differential diagnosis with Duchenne/ Becker muscular dystrophy 、 limb-girdle muscular dystrophies and polymyositis.

目的通过分析4例被误诊的脂质沉积性肌病的临床及病理特点，探讨脂质沉积性肌病被误诊的原因及与假肥大型肌营养不良、肢带型肌营养不良及多发性肌炎的鉴别诊断。

Two patients were diagnosed as facioscapulohumeral muscular dystrophy, one as limb-girdle muscular dystrophy and the others' etiology were unknown.

其中2例临床诊断为面肩肱型肌营养不良，1例免疫组化染色证实为肢带型肌营养不良，余均未发现明确病因。