title: Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family.
abstract: Congenital hypomyelinating neuropathy is a rare condition characterized by prenatal, neonatal or early infantile onset of hypotonia, paresis and areflexia. Most of the few patients described in literature die within the first years of life. Histopathologically there are no or thin myelin sheaths. Mutations have been described in the following genes, MPZ, EGR2, PMP22, and MTMR2. Here we describe a family with a heterozygous mutation in MPZ, confirmed in two generations.
authors.affiliation: Department of Pediatric Neurology, Erasmus MC-Sophia Children's Hospital, Dr. Molewaterplein 60, PO Box 2060, 3000 CB Rotterdam, The Netherlands. l.s.smit@erasmusmc.nl
authors.forename: Liesbeth S
authors.initials: LS
authors.lastname: Smit
authors.forename: Daniella
authors.initials: D
authors.lastname: Roofthooft
authors.forename: Fred
authors.initials: F
authors.lastname: van Ruissen
authors.forename: Frank
authors.initials: F
authors.lastname: Baas
authors.forename: Pieter A
authors.initials: PA
authors.lastname: van Doorn
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D003711:Demyelinating Diseases / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D004576:Electromyography; D005260:Female; D005500:Follow-Up Studies; D005819:Genetic Markers / Q000235:genetics; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008854:Microscopy, Electron; D009154:Mutation / Q000235:genetics; D018993:Myelin P0 Protein / Q000235:genetics; D009186:Myelin Sheath / Q000473:pathology*; D009431:Neural Conduction / Q000235:genetics; D010525:Peripheral Nerves / Q000473:pathology* / Q000503:physiopathology; D010523:Peripheral Nervous System Diseases / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D013997:Time Factors