A novel mutation of LRSAM1 in a Chinese family with Charcot‐Marie‐Tooth disease. Issue 1 (6th February 2018)

• Record Type: Journal Article
• Authors: Zhao, Guohua; Song, Jie; Yang, Mi; Song, Xiuhua; Liu, Xiaomin
• Is Part Of: Journal of the peripheral nervous system. Volume 23:Issue 1(2018)
• Page Start: 55
• Page End: 59
• Publication Date: 2018-02-06
• Subjects: Charcot‐Marie‐Tooth disease -- Chinese -- LRSAM1 -- mutation; Nervous system -- Periodicals; Nerves, Peripheral -- Diseases -- Periodicals; Peripheral Nervous System Diseases -- Periodicals; Peripheral Nervous System -- Periodicals; 612.81
• DOI: 10.1111/jns.12247
• Languages: English
• ISSNs: 1085-9489

Abstract

Abstract: 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.