TY - T1的进行性肌肉萎缩症的成年人LAMA2基因的突变(1520)JF -神经学乔-神经学六世- 96 - 15补充SP - 1520 AU - V Vedanarayanan盟Varun首页 Sreenivasan Y1 - 2021/04/13 UR - //www.ez-admanager.com/content/96/15_Supplement/1520.abstract N2 -目的:描述临床表型和基因型在两个成年人的缓慢进行性肌肉萎缩症突变LAMA2 geneBackground:喇嘛2基因的纯合子突变导致隐性遗传先天性肌肉萎缩症- 1型,在婴儿。肌肉无力经常与关节挛缩在新生儿和婴儿期展示功能。很少,成年人与突变喇嘛2现在慢慢地发展肌肉无力。设计/方法:我们从小说呈现2成人进步肌病基因突变在LAMA2 genesResults:患者正常的出生和没有延迟获得发展的里程碑。进步的下肢无力开始于青少年,其次是上肢的弱点。肩胛飞行在场。挛缩的臀部、腿筋,脚踝和上肢的最低限度。一个病人成为依赖轮椅41岁,而另一走动与修改后的步态。两个病人抑郁,没有反应。血清CK升高是正常上限的2到5倍。 Nerve conduction studies performed in one of the patients demonstrated a mild, sensorimotor demyelinating neuropathy, while needle EMG in the same patient demonstrated a mild non-irritable myopathy. Muscle biopsy revealed chronic myopathy with endomysial fibrosis and rare regenerating fibers. MuataMagnetic resonance imaging of the brain in both patients revealed extensive hyperintenseT2 signal in the periventricular white matter.One patient, had a pathogenic mutation, c.7658del, and a previously described variant of uncertain significance ( VUS), c.1670A>C, in the LAMA2 gene. The other patient had a pathogenic c.8553_8557del mutation, and a VUS - c.2176T>C.Conclusions: Mutations in LAMA 2 produce chronic and progressive myopathies in adults with features of demyelination in white matter and peripheral nerves.Disclosure: Dr. Vedanarayanan has nothing to disclose. Dr. Sreenivasan has nothing to disclose. ER -