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...

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Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: The American Society of Human Genetics 2001
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Articles
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1235559/
https://ncbi.nlm.nih.gov/pubmed/11592034
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