Article
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.
American journal of human genetics - 1 Oct 2002
Ferreiro Ana, Quijano-Roy Susana, Pichereau Claire, Moghadaszadeh Behzad, Goemans Nathalie, Bönnemann Carsten, Jungbluth Heinz, Straub Volker, Villanova Marcello, Leroy Jean-Paul, Romero Norma B, Martin Jean-Jacques, Muntoni Francesco, Voit Thomas, Estournet Brigitte, Richard Pascale, Fardeau Michel, Guicheney Pascale
Abstract excerpt
Multiminicore disease (MmD) is an autosomal recessive congenital myopathy characterized by the presence of multiple, short core lesions (known as "minicores") in most muscle fibers. MmD is a clinically heterogeneous condition, in which four subgroups have been distinguished. Homozygous RYR1 mutations have been recently identified in the moderate form of MmD with hand involvement. The genes responsible for the...
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