Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy.

Journal article

BACKGROUND: Muscle LIM protein (MLP) is an essential nuclear regulator of myogenic differentiation. Additionally, it may act as an integrator of protein assembly of the actin-based cytoskeleton. MLP-knockout mice develop a marked cardiac hypertrophy reaction and dilated cardiomyopathy (DCM). MLP is therefore a candidate gene for heritable forms of hypertrophic cardiomyopathy (HCM) and DCM in humans. METHODS AND RESULTS: We analyzed 1100 unrelated individuals (400 patients with DCM, 200 patie...

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Authors: Geier, C; Perrot, A; Ozcelik, C; Binner, P; Counsell, D

• Journal: Circulation
• Volume: 107
• Issue: 10
• Pages: 1390-1395
• Publication date: 2003-03-01
• DOI: 10.1161/01.cir.0000056522.82563.5f
• EISSN: 1524-4539
• ISSN: 0009-7322
• Language: English
• Keywords: Muscle Proteins; Middle Aged; Cardiomyopathy, Hypertrophic; Adolescent; Aged; LIM Domain Proteins; Humans; Adult; Genetic Predisposition to Disease; Mutation, Missense; Family Health; Actinin; Male; Amino Acid Sequence; Pedigree; Models, Molecular; Sequence Alignment; Protein Structure, Tertiary; Molecular Sequence Data; Female