Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy

Muscle contraction results from the force generated between the thin filament protein actin and the thick filament protein myosin, which causes the thick and thin muscle filaments to slide past each other 1 . There are skeletal muscle, cardiac muscle, smooth muscle and non-muscle isoforms of both ac...

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Veröffentlicht in:	Nature genetics 1999-10, Vol.23 (2), p.208-212
Hauptverfasser:	Wilce, Matthew, Hübner, Christoph, Nowak, Kristen J, Laing, Nigel G, Wattanasirichaigoon, Duangrurdee, Pelin, Katarina, Oexle, Konrad, Müller, Clemens R, Nürnberg, Peter, Iannaccone, Susan T, Beggs, Alan H, Wallgren-Pettersson, Carina, Donner, Kati, Sutphen, Rebecca, Sewry, Caroline, Jacob, Rebecca L, Anderson, Janice R, Verity, Christopher M, Lacson, Atilano G, Swoboda, Kathryn J, Goebel, Hans H, North, Kathryn N, Muntoni, Francesco, Hughes, Imelda, Vigneron, Jaqueline
Format:	Artikel
Sprache:	eng
Schlagworte:	Actins - genetics Adolescent Adult Agriculture Amino Acid Sequence Amino Acid Substitution Animal Genetics and Genomics Base Sequence Biological and medical sciences Biomedical and Life Sciences Biomedicine Cancer Research Child Child, Preschool Diseases of striated muscles. Neuromuscular diseases DNA - chemistry DNA - genetics DNA Mutational Analysis Family Health Female Gene Function Human Genetics Humans Infant letter Male Medical sciences Molecular Sequence Data Muscle, Skeletal - metabolism Muscular Diseases - genetics Mutation Myopathies, Nemaline - genetics Neurology Point Mutation Polymorphism, Genetic Polymorphism, Single-Stranded Conformational Sequence Analysis, DNA Sequence Homology, Amino Acid
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