Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health
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3. A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3;Driss;Neuromuscul Disord,2000
4. Mutation in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin α2 deficiency and abnormal glycosilation of α-dystroglycan;Brockington;Am J Hum Genet,2001
5. Mutation in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C;Brockington;Hum Mol Genetics,2001
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