EDMD

Emerin protein is deficient in EDMD.

肌核膜emerin蛋白缺失；

There is no mutation of STA gene in sporadic EDMD.

散发性EDMD的STA基因无突变。

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.

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。

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；