Article
Functional requirements for fukutin-related protein in the Golgi apparatus.
Human molecular genetics - 15 Dec 2002
Esapa Chris T, Benson Matthew A, Schröder Jörn E, Martin-Rendon Enca, Brockington Martin, Brown Susan C, Muntoni Francesco, Kröger Stephan, Blake Derek J
Abstract excerpt
Two forms of congenital muscular dystrophy (CMD), Fukuyama CMD and CMD type 1C (MDC1C) are caused by mutations in the genes encoding two putative glycosyltransferases, fukutin and fukutin-related protein (FKRP). Additionally, mutations in the FKRP gene also cause limb-girdle muscular dystrophy type 2I (LGMD2I), a considerably milder allelic variant than MDC1C. All of these diseases are associated with secondary...
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