Article
The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2008
Schara Ulrike, Kress Wolfram, Bönnemann Carsten G, Breitbach-Faller Nico, Korenke Christoph G, Schreiber Gudrun, Stoetter Mechthild, Ferreiro Ana, von der Hagen Maja
Abstract excerpt
The selenoprotein N1-related myopathies comprise rigid spine muscular dystrophy, the "classical" form of multiminicore disease, a desmin-related myopathy with Mallory body like inclusions and a form of congenital fiber-type disproportion. To define the phenotype and long-term clinical course in juvenile Selenoprotein N1-related myopathies 11 juvenile patients from eight families with SEPN1 mutations were assessed...
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