Eye and Brain Abnormalities in Congenital Muscular Dystrophies Caused by Fukutin-Related Protein Gene (FKRP) Mutations

Author:

Kava Maina,Chitayat David,Blaser Susan,Ray Peter N.,Vajsar Jiri

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,Neurology,Pediatrics, Perinatology, and Child Health

Reference14 articles.

1. 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;Brockington;Am J Hum Genet,2001

2. FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts;Topaloglu;Neurology,2003

3. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome;de Bernabe;J Med Genet,2004

4. Congenital muscular dystrophies with defective glycosylation of dystroglycan—A population study;Mercuri;Neurology,2009

5. Sparks S, Quijano-Roy S, Harper A, et al. Congenital muscular dystrophy overview. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. 2001;Jan 22 [updated 2012 Aug 23].

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