Micropolygyria

Micropolygyria is a neuronal migration disorder, a developmental anomaly of the brain characterized by development of numerous small convolutions (microgyri), causing intellectual disability and/or other neurological disorders.[1] It is present in a number of specific neurological diseases, notably multiple sclerosis and Fukuyama congenital muscular dystrophy, a specific disease cause by mutation in the Fukutin gene (FKTN).[2][3]

Micropolygyria
Other namesPolymicrogyria, Polygyria, or Microgyria
SpecialtyNeurology

References
  1. Dorland's Illustrated Medical Dictionary Merck Archived 2007-10-11 at the Wayback Machine.
  2. Murakami T, Hayashi YK, Noguchi S, et al. (November 2006). "Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness". Ann. Neurol. 60 (5): 597–602. doi:10.1002/ana.20973. PMID 17036286.
  3. Brockington M, Blake DJ, Prandini P, et al. (December 2001). "Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan". Am. J. Hum. Genet. 69 (6): 1198–209. doi:10.1086/324412. PMC 1235559. PMID 11592034.


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.