A novel mutation of LRSAM1 in a Chinese family with Charcot-Marie-Tooth disease

作者：Zhao, Guohua; Song, Jie; Yang, Mi; Song, Xiuhua; Liu, Xiaomin^*

来源：Journal of the Peripheral Nervous System, 2018, 23(1): 55-59.

DOI：10.1111/jns.12247

• Charcot-Marie-Tooth disease
• Chinese
• LRSAM1
• mutation

Charcot-Marie-Tooth (CMT) disease is the most common inherited peripheral neuropathy characterized by progressive distal muscle weakness and atrophy with decreased or absent tendon reflexes. Mutations in LRSAM1 have been identified to cause CMT disease type 2P. We report a novel LRSAM1 mutation c.2021-2024del (p.E674VfsX11) in a Chinese autosomal dominant CMT disease type 2 family. The phenotype was characterized by late onset and mild sensory impairment. Electrophysiological findings showed normal or mildly to moderately reduced motor and sensory nerve conduction velocities in lower and upper limb nerves.

• 出版日期2018-3
• 单位山东大学; 浙江大学; 山东省千佛山医院