title: Unusual Charcot-Marie-Tooth phenotype due to a mutation within the intracellular domain of myelin protein zero.
abstract: Myelin protein zero (MPZ/P0) constitutes a major component of compact peripheral myelin. We report a family with a missense mutation, c.700G>T p.Asp234Tyr (deviant nomenclature: c.670G>T, p.Asp224Tyr), within the intracellular domain of myelin protein zero, who has distal sensorimotor symptoms, cramps, restless legs syndrome, neuropathic pain, and carpal tunnel syndrome. The index patient responded to intravenous immunoglobulin and immunosuppression, so there may be a possible secondary autoimmune process, probably triggered by altered antigen presentation due to mutated MPZ protein.
authors.affiliation: Department of Neurology, St. Josef-Hospital, Ruhr-University Bochum, Gudrunstrasse 56, 44791 Bochum, Germany. christiane.schneider-Gold@rub.de
authors.forename: Christiane
authors.initials: C
authors.lastname: Schneider-Gold
authors.forename: Judith
authors.initials: J
authors.lastname: Kötting
authors.forename: Jörg T
authors.initials: JT
authors.lastname: Epplen
authors.forename: Ralf
authors.initials: R
authors.lastname: Gold
authors.forename: Wanda M
authors.initials: WM
authors.lastname: Gerding
mesh_terms: D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D007424:Intracellular Fluid / Q000737:chemistry / Q000378:metabolism; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D018993:Myelin P0 Protein / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017434:Protein Structure, Tertiary / Q000235:genetics
chemical_list: D018993:Myelin P0 Protein