title: A novel myelin protein zero (V136G) homozygous mutation causing late onset demyelinating polyneuropathy with brain white matter lesions.
abstract: Although less common than peripheral myelin protein 22 (PMP22) duplication, there are mutations in myelin protein zero (MPZ) responsible for Charcot-Marie-Tooth disease (CMT) with a number of different clinical profiles. We report here a novel MPZ homozygous mutation, with a peculiar pattern characterized by a late-onset demyelinating profile. In addition, the patient presented brain white matter lesions seemingly ascribable to the mutation.
authors.affiliation: Department of Clinical Neurophysiology, Hospital Ramon y Cajal, Ctra. de Colmenar Viejo km. 9, 100 28034 Madrid, Spain. kermkaren@gmail.com
authors.forename: K
authors.initials: K
authors.lastname: Reyes-Marin
authors.forename: J
authors.initials: J
authors.lastname: Jimenez-Pancho
authors.forename: Lidia
authors.initials: L
authors.lastname: Pozo
authors.forename: M
authors.initials: M
authors.lastname: Garcia-Villanueva
authors.forename: G
authors.initials: G
authors.lastname: de Blas
authors.forename: J M
authors.initials: JM
authors.lastname: Vazquez
authors.forename: A
authors.initials: A
authors.lastname: Jimenez-Escrig
mesh_terms: D000368:Aged; D001921:Brain / Q000473:pathology*; D003711:Demyelinating Diseases / Q000235:genetics* / Q000473:pathology; D005260:Female; D006720:Homozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D009154:Mutation / Q000502:physiology*; D018993:Myelin P0 Protein / Q000235:genetics*; D009422:Nervous System Diseases / Q000209:etiology / Q000235:genetics; D011115:Polyneuropathies / Q000473:pathology*
chemical_list: D018993:Myelin P0 Protein