title: Two novel MPZ mutations in Chinese CMT patients.
abstract: To investigate the myelin protein zero (MPZ) gene mutation and related clinical features in Chinese Charcot-Marie-Tooth (CMT) patients, we screened the coding sequence of MPZ in 70 unrelated CMT index patients after excluding the PMP22 duplication, Cx32 and MFN2 mutations. We found four different missense mutations: c.194C>T, c.242A>T, c.371C>T, and c.419C>G. The frequency of MPZ mutation was approximately 4.35% of the total, 3.08% of CMT1, and 6% of CMT2. Mutations c.242A>T and c.419C>G are novel. The mutation c.242A>T exhibited late onset and rapidly progressive CMT2 phenotype. The mutation c.419C>G exhibited relatively late onset and slowly progressive CMT1 phenotype.
authors.affiliation: Department of Neurology, the Third Xiangya Hospital.
authors.forename: Lei
authors.initials: L
authors.lastname: Liu
authors.forename: Xiaobo
authors.initials: X
authors.lastname: Li
authors.forename: Xiaohong
authors.initials: X
authors.lastname: Zi
authors.forename: Shunxiang
authors.initials: S
authors.lastname: Huang
authors.forename: Yajing
authors.initials: Y
authors.lastname: Zhan
authors.forename: Mingming
authors.initials: M
authors.lastname: Jiang
authors.forename: Jifeng
authors.initials: J
authors.lastname: Guo
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Beisha
authors.initials: B
authors.lastname: Tang
authors.forename: Ruxu
authors.initials: R
authors.lastname: Zhang
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D018993:Myelin P0 Protein / Q000235:genetics*; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: D018993:Myelin P0 Protein
keywords: CMT; MPZ; clinical features; mutation