Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

The congenital nemaline myopathies are rare hereditary muscle disorders characterized by the presence in the muscle fibers of nemaline bodies consisting of proteins derived from the Z disc and thin filament. In a single large Australian family with an autosomal dominant form of nemaline myopathy, th...

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Main Authors: Pelin, Katarina, Hilpelä, Pirta, Donner, Kati, Sewry, Caroline, Akkari, Patrick A., Wilton, Stephen D., Wattanasirichaigoon, Duangrurdee, Bang, Marie-Louise, Centner, Thomas, Hanefeld, Folker, Odent, Sylvie, Fardeau, Michel, Urtizberea, J. Andoni, Muntoni, Francesco, Dubowitz, Victor, Beggs, Alan H., Laing, Nigel G., Labeit, Siegfried, de la Chapelle, Albert, Wallgren-Pettersson, Carina
Formato: Artigo
Idioma:Inglês
Publicado em: The National Academy of Sciences 1999
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC26779/
https://ncbi.nlm.nih.gov/pubmed/10051637
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