title: A novel MPZ gene mutation in congenital neuropathy with hypomyelination.
abstract: Congenital hypomyelinating neuropathy (CHN; MIM# 605253) is a severe neuropathy with early infancy onset inherited as an autosomal dominant or recessive trait. Sural nerve biopsy shows a characteristic picture of nonmyelinated and poorly myelinated axons with basal lamina onion bulbs and lack of myelin breakdown products. Several mutations in the MTMR2, PMP22, EGR2, and MPZ genes have been found in patients with CHN. The authors describe the clinical and morphologic features of a patient with CHN and the identification of a novel Thr124Lys mutation in the MPZ gene.
authors.affiliation: Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland. andko@cmdik.pan.pl
authors.forename: A
authors.initials: A
authors.lastname: Kochanski
authors.forename: H
authors.initials: H
authors.lastname: Drac
authors.forename: D
authors.initials: D
authors.lastname: Kabzińska
authors.forename: B
authors.initials: B
authors.lastname: Ryniewicz
authors.forename: K
authors.initials: K
authors.lastname: Rowińska-Marcińska
authors.forename: A
authors.initials: A
authors.lastname: Nowakowski
authors.forename: I
authors.initials: I
authors.lastname: Hausmanowa-Petrusewicz
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D019943:Amino Acid Substitution; D002648:Child; D004200:Diseases in Twins; D005091:Exons / Q000235:genetics; D005799:Genes, Dominant; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009123:Muscle Hypotonia / Q000151:congenital / Q000235:genetics; D020125:Mutation, Missense; D018993:Myelin P0 Protein / Q000737:chemistry / Q000235:genetics*; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D012021:Reflex, Abnormal; D012600:Scoliosis / Q000235:genetics; D013497:Sural Nerve / Q000503:physiopathology / Q000648:ultrastructure
chemical_list: D018993:Myelin P0 Protein