title: Infantile neuropathy with unstable myelin: study of the P0 protein.
abstract: An unusual form of hereditary motor and sensory neuropathy characterized by a prominent disruption of the myelin lamellae is reported. In addition to detailed morphological analysis, we investigated the protein P0, which is the major protein of peripheral myelin involved in adhesion. No major gene rearrangement and no differences in P0 protein expression were observed in the present case.
authors.affiliation: Service de Neuropédiatrie, CHU de Bicêtre, Le Kremlin-Bicêtre, France.
authors.forename: S
authors.initials: S
authors.lastname: Peudenier
authors.forename: J F
authors.initials: JF
authors.lastname: Deleuze
authors.forename: D
authors.initials: D
authors.lastname: Pham-Dinh
authors.forename: C
authors.initials: C
authors.lastname: Lacroix
authors.forename: J
authors.initials: J
authors.lastname: Boulloche
authors.forename: P
authors.initials: P
authors.lastname: Landrieu
mesh_terms: D002648:Child; D015870:Gene Expression; D015321:Gene Rearrangement; D015417:Hereditary Sensory and Motor Neuropathy / Q000378:metabolism* / Q000473:pathology; D006801:Humans; D008297:Male; D018993:Myelin P0 Protein; D009185:Myelin Proteins / Q000032:analysis* / Q000096:biosynthesis / Q000235:genetics; D009186:Myelin Sheath / Q000737:chemistry / Q000473:pathology*; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D009431:Neural Conduction; D010543:Peroneal Nerve / Q000473:pathology
chemical_list: D018993:Myelin P0 Protein; D009185:Myelin Proteins