Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin 2 deficiency and abnormal glycosylation of -dystroglycan

Brockington, Martin, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, 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 and Muntoni, Francesco 2001. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin 2 deficiency and abnormal glycosylation of -dystroglycan. American Journal of Human Genetics 69 (6) , pp. 1198-1209. 10.1086/324412

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Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
ISSN:	0002-9297
Last Modified:	17 Oct 2022 08:35
URI:	https://orca.cardiff.ac.uk/id/eprint/554

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