Mutations in the muscle LIM protein and α-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis

B Mohapatra, S Jimenez, JH Lin, KR Bowles… - Molecular genetics and …, 2003 - Elsevier
Dilated cardiomyopathy (DCM) is a major cause of morbidity and mortality. Two genes have
been identified for the X-linked forms (dystrophin and tafazzin), while mutations in multiple
genes cause autosomal dominant DCM. Muscle LIM protein (MLP) is a member of the
cysteine-rich protein (CRP) family and has been implicated in both myogenesis and
sarcomere assembly. In the latter role, it binds zyxin and α-actinin, both of which are
involved in actin organization. An MLP-deficient mouse has been described; these mice …