title: Peripheral nerve involvement in fukuyama congenital muscular dystrophy: a case report.
abstract: Fukuyama congenital muscular dystrophy is characterized by generalized muscle weakness and disturbances in central nervous system migration. Although this disorder is caused by mutations in the fukutin gene, which encodes a protein associated with the hypoglycosylation of α-dystroglycan, the specific functions of fukutin protein are largely unknown. In addition to being found in muscle and brain, α-dystroglycan is expressed in various other tissues including peripheral nerves, suggesting that deficiencies in fukutin may result in abnormal myelination of peripheral nerves due to the aberrant glycosylation of Schwann cell α-dystroglycan. This report describes a 7-year-old girl with Fukuyama congenital muscular dystrophy and demyelinating peripheral polyneuropathy.
authors.affiliation: Department of Rehabilitation, Incheon St Mary's Hospital, the Catholic University of Korea, Incheon, Korea.
authors.forename: Dae-Hyun
authors.initials: DH
authors.lastname: Jang
authors.forename: In Young
authors.initials: IY
authors.lastname: Sung
authors.forename: Tae Sung
authors.initials: TS
authors.lastname: Ko
mesh_terms: D001921:Brain / Q000473:pathology; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008565:Membrane Proteins / Q000235:genetics; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation / Q000235:genetics; D010523:Peripheral Nervous System Diseases / Q000209:etiology* / Q000235:genetics; D058494:Walker-Warburg Syndrome / Q000150:complications* / Q000235:genetics / Q000473:pathology*
chemical_list: C113587:FKTN protein, human; D008565:Membrane Proteins