EDMD

The diagnosis of EDMD is based just on clinical observation because there is no characteristic distinction in muscle biopsies.

本病的诊断主要根据临床观察，因为肌肉活组织检查没有明显的特征性。

Emerin protein is deficient in EDMD.

肌核膜emerin蛋白缺失；

The inheritance pattern of EDMD includes X-linked recessive, autosomal dominant and recessive modes.

其遗传方式为X - 连锁隐性 、 染色体显性和隐性遗传.

There is no mutation of STA gene in sporadic EDMD.

散发性EDMD的STA基因无突变。

Results ( 1) Onset in early childhood, joint contractures and cardiac involvement, followed by symmetrical limb muscular wasting and weakness were clinical feature of EDMD.

结果（1）儿童时发病，早期关节挛缩和心脏受累，相继出现对称性肢体肌肉萎缩和无力是EDMD的临床特征；