title: Two recessive intermediate Charcot-Marie-Tooth patients with GDAP1 mutations.
abstract: Various phenotypes have been reported in Charcot-Marie-Tooth (CMT) disease carrying mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene. Here, we report two recessive intermediate Charcot-Marie-Tooth (RI-CMT) patients with GDAP1 missense mutations: a His256Arg homozygous mutation (c.767A>G + c.767A>G) and compound mutations of heterozygous Pro111His (c.332C>A) and Val219Gly (c.656T>G). The Pro111His and Val219Gly are unreported mutations, but the His256Arg was previously reported. In both patients, histopathological findings showed well-documented features of mixed demyelinating and axonal neuropathies, and nerve conduction velocities fall in the intermediate range. In addition, the patterns of fatty substitutions in leg magnetic resonance imaging (MRI) were different by the mutation sites within the same GDAP1 gene.
authors.affiliation: Department of Biological Science and Research Center for Biotechnology, Kongju National University, Gongju, Chungnam.
authors.forename: Ki W
authors.initials: KW
authors.lastname: Chung
authors.forename: Young S
authors.initials: YS
authors.lastname: Hyun
authors.forename: Hae J
authors.initials: HJ
authors.lastname: Lee
authors.forename: Hwa-Kyoung
authors.initials: HK
authors.lastname: Jung
authors.forename: Heasoo
authors.initials: H
authors.lastname: Koo
authors.forename: Jeong H
authors.initials: JH
authors.lastname: Yoo
authors.forename: Sang-Beom
authors.initials: SB
authors.lastname: Kim
authors.forename: Chan I
authors.initials: CI
authors.lastname: Park
authors.forename: Han N
authors.initials: HN
authors.lastname: Kim
authors.forename: Byung-Ok
authors.initials: BO
authors.lastname: Choi
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D017354:Point Mutation
chemical_list: C118663:GDAP protein; D009419:Nerve Tissue Proteins