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Direct linkThornhill, Paul; Bassett, David; Lochmuller, Hanns; Bushby, Kate; Straub, Volker – Brain, 2008
A number of muscular dystrophies are associated with the defective glycosylation of [alpha]-dystroglycan and many are now known to result from mutations in a number of genes encoding putative or known glycosyltransferases. These diseases include severe forms of congenital muscular dystrophy (CMD) such as Fukuyama type congenital muscular dystrophy…
Descriptors: Symptoms (Individual Disorders), Brain, Disabilities, Neurological Impairments
