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Article

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

Journal of the peripheral nervous system : JPNS - 1 Mar 2018

Zhao Guohua, Song Jie, Yang Mi, Song Xiuhua, Liu Xiaomin

Abstract excerpt

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...

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PMID: 29341362
DOI: 10.1111/jns.12247

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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