title: Dysmyelinating sensory-motor neuropathy in merosin-deficient congenital muscular dystrophy.
abstract: A 20-year-old man with mild myopathy, external ophthalmoparesis, epilepsy, and diffuse white matter hyperintensity in the brain on magnetic resonance imaging had partial merosin deficiency in muscle and absent merosin in the endoneurium. Motor and sensory nerve conduction velocities were slow. Nerve biopsy showed reduction of large myelinated fibers, short internodes, enlarged nodes, excessive variability of myelin thickness, tomacula, and uncompacted myelin, but no evidence of segmental demyelination, naked axons, or onion bulbs. Thus, in congenital muscular dystrophy, merosin expression may be dissociated in different tissues, and the neuropathy is sensory-motor and due to abnormal myelinogenesis.
authors.affiliation: Center for Neuromuscular Diseases, University G. d'Annunzio, Chieti, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Di Muzio
authors.forename: M V
authors.initials: MV
authors.lastname: De Angelis
authors.forename: P
authors.initials: P
authors.lastname: Di Fulvio
authors.forename: A
authors.initials: A
authors.lastname: Ratti
authors.forename: A
authors.initials: A
authors.lastname: Pizzuti
authors.forename: L
authors.initials: L
authors.lastname: Stuppia
authors.forename: D
authors.initials: D
authors.lastname: Gambi
authors.forename: A
authors.initials: A
authors.lastname: Uncini
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics* / Q000378:metabolism* / Q000503:physiopathology; D006801:Humans; D007150:Immunohistochemistry; D007797:Laminin / Q000172:deficiency* / Q000235:genetics; D008297:Male; D008854:Microscopy, Electron; D009124:Muscle Proteins / Q000235:genetics / Q000378:metabolism; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000150:complications* / Q000235:genetics / Q000378:metabolism; D009186:Myelin Sheath / Q000473:pathology / Q000648:ultrastructure; D009413:Nerve Fibers, Myelinated / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D009431:Neural Conduction / Q000235:genetics; D010525:Peripheral Nerves / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology; D013497:Sural Nerve / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology
chemical_list: D007797:Laminin; D009124:Muscle Proteins