Myopathy-causing actin mutations promote defects in serum-response factor signalling
نویسندگان
چکیده
منابع مشابه
Myopathy-causing actin mutations promote defects in serum-response factor signalling.
Mutations in the gene encoding skeletal muscle alpha-actin (ACTA1) account for approx. 20% of patients with the muscular disorder nemaline myopathy. Nemaline myopathy is a muscular wasting disease similar to muscular dystrophy, but distinguished by deposits of actin and actin-associated proteins near the z-line of the sarcomere. Approx. one-third of the over 140 myopathy actin mutations have be...
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Congenital myopathies resulting from mutations in the gene encoding α-skeletal-muscle actin, ACTA1, show various phenotypes that have been divided into three classes based on the morphology observed in patient muscle biopsies (Sparrow et al., 2003). These myopathies have a range of severity, from mild (with long-term survival and only minor muscle weakness), to severe (with lethality shortly af...
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ژورنال
عنوان ژورنال: Biochemical Journal
سال: 2010
ISSN: 0264-6021,1470-8728
DOI: 10.1042/bj20091641