These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Peripheral nerve involvement in fukuyama congenital muscular dystrophy: a case report.
    Author: Jang DH, Sung IY, Ko TS.
    Journal: J Child Neurol; 2013 Jan; 28(1):132-7. PubMed ID: 22378666.
    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.
    [Abstract] [Full Text] [Related] [New Search]