Article
Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding.
Human mutation - 1 Jun 2006
Wenzel Katrin, Carl Miriam, Perrot Andreas, Zabojszcza Joanna, Assadi Maziar, Ebeling Martin, Geier Christian, Robinson Peter N, Kress Wolfram, Osterziel Karl-Josef, Spuler Simone
Abstract excerpt
Mutations in the gene encoding dysferlin (DYSF) cause the allelic autosomal recessive disorders limb girdle muscular dystrophy 2B and Miyoshi myopathy. It encompasses 55 exons spanning 150 kb of genomic DNA. Dysferlin is involved in membrane repair in skeletal muscle. We identified three families with novel sequence variants in DYSF. All affected family members showed limb girdle weakness and had reduced or...
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