Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker–Warburg syndrome

12 Clinical features of MDC1C are onset in the first weeks of life, inability to walk, muscle hypertrophy, and highly elevated serum creatine kinase (CK) levels. 12, 13 Mutations in the same gene also underlie a milder form of muscular dystrophy (limb girdle muscular dystrophy 2I or LGMD2I), charact...

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Bibliographic Details
Published in:	Journal of medical genetics Vol. 41; no. 5; p. e61
Main Authors:	Beltran-Valero de Bernabé, D, Voit, T, Longman, C, Steinbrecher, A, Straub, V, Yuva, Y, Herrmann, R, Sperner, J, Korenke, C, Diesen, C, Dobyns, W B, Brunner, H G, van Bokhoven, H, Brockington, M, Muntoni, F
Format:	Journal Article
Language:	English
Published:	England BMJ Publishing Group Ltd 01-05-2004 BMJ Publishing Group LTD BMJ Group
Subjects:	Age Brain - abnormalities Brain - pathology Brain diseases Child congenital muscular dystrophy Cysts Defects Electronic Letter Eye Abnormalities - genetics Female FKRP Genetic Predisposition to Disease Genotype & phenotype Humans Infant, Newborn Intellectual disabilities Kinases Magnetic Resonance Imaging Male Muscle, Skeletal muscle-eye-brain disease Muscular Dystrophies - diagnosis Muscular Dystrophies - genetics Muscular dystrophy Musculoskeletal system Mutation Mutation, Missense Patients Proteins Proteins - genetics Syndrome Walker–Warburg syndrome α-dystroglycan glycosylation
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