Article
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.
Human molecular genetics - 1 Dec 2001
Brockington M, Yuva Y, Prandini P, Brown S C, Torelli S, Benson M A, Herrmann R, Anderson L V, Bashir R, Burgunder J M, Fallet S, Romero N, Fardeau M, Straub V, Storey G, Pollitt C, Richard I, Sewry C A, Bushby K, Voit T, Blake D J, Muntoni F
Abstract excerpt
The limb girdle and congenital muscular dystrophies (LGMD and CMD) are characterized by skeletal muscle weakness and dystrophic muscle changes. The onset of symptoms in CMD is within the first few months of life, whereas in LGMD they can occur in late childhood, adolescence or adult life. We have recently demonstrated that the fukutin-related protein gene (FKRP) is mutated in a severe form of CMD (MDC1C),...
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