limb-girdle muscular dystrophy

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。

Exclusive gene mapping on limb-girdle muscular dystrophy in a Chinese kindred

肢带型肌营养不良一家系致病基因排除性定位

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。

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

Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I

2Ⅰ型肢带型肌营养不良患者的临床和分子特征