title: Novel mutation in X-linked Charcot-Marie-Tooth disease associated with CNS impairment.
abstract: The authors describe a 16-year-old boy with severe muscular atrophy and signs of peripheral neuropathy compatible with Charcot-Marie-Tooth disease. Abnormalities in the cerebellum and central somatosensory pathway were also noted. Gene analysis revealed a novel gross insertion mutation in exon 2 of the connexin32 gene along with a 21-base pair duplication resulting in a seven-amino acid insertion in the first extracellular loop of the protein.
authors.affiliation: Third Department of Internal Medicine, Hiroshima University School of Medicine, Japan. hkawakam@hiroshima-u.ac.jp
authors.forename: Hideshi
authors.initials: H
authors.lastname: Kawakami
authors.forename: Ken
authors.initials: K
authors.lastname: Inoue
authors.forename: Ichiro
authors.initials: I
authors.lastname: Sakakihara
authors.forename: Shigenobu
authors.initials: S
authors.lastname: Nakamura
mesh_terms: D000293:Adolescent; D002493:Central Nervous System Diseases / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D002531:Cerebellum / Q000000981:diagnostic imaging / Q000503:physiopathology; D002607:Charcot-Marie-Tooth Disease / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011877:Radionuclide Imaging; D017422:Sequence Analysis, DNA