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A novel mutation of LRSAM1 in a Chinese family with Charcot‐Marie‐Tooth disease
Author(s) -
Zhao Guohua,
Song Jie,
Yang Mi,
Song Xiuhua,
Liu Xiaomin
Publication year - 2018
Publication title -
journal of the peripheral nervous system
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 67
eISSN - 1529-8027
pISSN - 1085-9489
DOI - 10.1111/jns.12247
Subject(s) - tooth disease , weakness , medicine , peripheral neuropathy , disease , mutation , nerve conduction velocity , atrophy , muscle atrophy , hereditary motor and sensory neuropathy , chinese family , phenotype , pathology , anatomy , genetics , biology , endocrinology , gene , diabetes mellitus
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.