Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin α2 Deficiency and Abnormal Glycosylation of α-Dystroglycan

The congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessive disorders presenting in infancy with muscle weakness, contractures, and dystrophic changes on skeletal-muscle biopsy. Structural brain defects, with or without mental retardation, are additional features of se...

Full description

Saved in:
Bibliographic Details
Main Authors: Brockington, Martin, Blake, Derek J., Prandini, Paola, Brown, Susan C., Torelli, Silvia, Benson, Matthew A., Ponting, Chris P., Estournet, Brigitte, Romero, Norma B., Mercuri, Eugenio, Voit, Thomas, Sewry, Caroline A., Guicheney, Pascale, Muntoni, Francesco
Format: Artigo
Language:Inglês
Published: The American Society of Human Genetics 2001
Subjects:
Articles
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1235559/
https://ncbi.nlm.nih.gov/pubmed/11592034
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items