Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy-Reference-Cited by-同舟云学术

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

Published:1999-10 Issue:2 Volume:23 Page:208-212
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Nowak Kristen J.,Wattanasirichaigoon Duangrurdee,Goebel Hans H.,Wilce Matthew,Pelin Katarina,Donner Kati,Jacob Rebecca L.,Hübner Christoph,Oexle Konrad,Anderson Janice R.,Verity Christopher M.,North Kathryn N.,Iannaccone Susan T.,Müller Clemens R.,Nürnberg Peter,Muntoni Francesco,Sewry Caroline,Hughes Imelda,Sutphen Rebecca,Lacson Atilano G.,Swoboda Kathryn J.,Vigneron Jaqueline,Wallgren-Pettersson Carina,Beggs Alan H.,Laing Nigel G.

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng1099_208.pdf

Reference30 articles.

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2. Taylor, A., Erba, H., Muscat, G. & Kedes, L. Nucleotide sequence and expression of the human skeletal α-actin gene: evolution of functional regulatory domains. Genomics 3, 323–336 (1988).

3. Olson, T.M., Michels, V.V., Thibodeau, S.N., Tai, Y.-S. & Keating, M.T. Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science 280, 750–752 (1998).

4. Mogensen, J. et al. α-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. J. Clin. Invest. 103, R39–R43 (1999).

5. Geisterfer-Lowrance, A.A.T. et al. A molecular basis for familial hypertrophic cardiomyopathy: a β-cardiac myosin heavy chain gene missense mutation. Cell 62, 999–1006 (1990).

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