Nemaline Myopathy with Minicores Caused by Mutation of the CFL2 Gene Encoding the Skeletal Muscle Actin–Binding Protein, Cofilin-2

Nemaline myopathy (NM) is a congenital myopathy characterized by muscle weakness and nemaline bodies in affected myofibers. Five NM genes, all encoding components of the sarcomeric thin filament, are known. We report identification of a sixth gene, CFL2, encoding the actin-binding protein muscle cof...

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Detalhes bibliográficos
Main Authors: Agrawal, Pankaj B., Greenleaf, Rebecca S., Tomczak, Kinga K., Lehtokari, Vilma-Lotta, Wallgren-Pettersson, Carina, Wallefeld, William, Laing, Nigel G., Darras, Basil T., Maciver, Sutherland K., Dormitzer, Philip R., Beggs, Alan H.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2007
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1785312/
https://ncbi.nlm.nih.gov/pubmed/17160903
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