Article
Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.
Annals of neurology - 1 May 2004
Ferreiro Ana, Ceuterick-de Groote Chantal, Marks Jared J, Goemans Nathalie, Schreiber Gudrun, Hanefeld Folker, Fardeau Michel, Martin Jean-Jacques, Goebel Hans H, Richard Pascale, Guicheney Pascale, Bönnemann Carsten G
Abstract excerpt
Desmin-related myopathies (DRMs) are a heterogeneous group of muscle disorders, morphologically defined by intrasarcoplasmic aggregates of desmin. Mutations in the desmin and the alpha-B crystallin genes account for approximately one third of the DRM cases. The genetic basis of the other forms remain unknown, including the early-onset, recessive form with Mallory body-like inclusions (MB-DRMs), first described in...
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