Genetics
Study findings from University of Helsinki, Finland, provide new insights into genetics
Published in Gene Therapy Weekly, November 16th, 2006
Study 1: Recent research from Finland has documented the identification of nebulin gene mutations associated with autosomal recessive nemaline myopathy (NM).
"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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Source: Gene Therapy Weekly (2006-11-16)
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