Published in Gene Therapy Weekly, November 16th, 2006
"NM is a clinically and genetically heterogeneous disorder of skeletal muscle caused by mutations in at least five different genes encoding thin filament proteins of the striated muscle sarcomere. We have previously described 18 different mutations in the last 42 exons of the nebulin gene (NEB) in 18 families with NM.
"Here we report 45 novel NEB mutations detected by denaturing...
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