Novel mutations in the lamin A/C gene in heart transplant recipients with end stage dilated cardiomyopathy

Heart

Volumn 92, Issue 4, 2006, Pages 524-526

  Karkkainen S ^a   Reisseil, E ^b   Helio T ^b   Kaartinen, M ^b   Tuomainen, P ^a   Toivonen, L ^b   Kuusisto, J ^a   Kupari, M ^b   Nieminen, M S ^b   Laakso, M ^a   Peuhkurinen, Keijo ^a,c  

^a UNIVERSITY OF EASTERN FINLAND   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

^c KUOPIO UNIVERSITY HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; LAMIN A; LAMIN C;

ADULT; ARTICLE; CLINICAL FEATURE; CONGESTIVE CARDIOMYOPATHY; DNA DETERMINATION; ECHOCARDIOGRAPHY; EXON; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HEART LEFT VENTRICLE EJECTION FRACTION; HEART LEFT VENTRICLE ENDDIASTOLIC VOLUME; HEART TRANSPLANTATION; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL; RECIPIENT; SURVIVAL; TREATMENT OUTCOME;

ADULT; CARDIOMYOPATHY, DILATED; CASE-CONTROL STUDIES; FEMALE; FINLAND; HEART TRANSPLANTATION; HUMANS; LAMIN TYPE A; MALE; MIDDLE AGED; MUTATION; PEDIGREE;

EID: 33645224459     PISSN: 13556037     EISSN: None     Source Type: Journal    
DOI: 10.1136/hrt.2004.056721     Document Type: Article

References (6)

1. Fatkin D, Graham RM. Molecular mechanisms of inherited cardiomyopathies. Physiol Rev 2002;82:945-80.
2. Fatkin D, MacRae C, Sasaki T, et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med 1999;341:1715-24.
3. Arbustini E, Pilotto A, Repetto A, et al. Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease. J Am Coll Cardiol 2002;39:981-90.
4. Taylor MR, Fain PR, Sinagra G, et al. Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. J Am Coll Cardiol 2003;41:771-80.
5. Verga L, Concardi M, Pilotto A, et al. Loss of lamin A/C expression revealed by immuno-electron microscopy in dilated cardiomyopathy with atrioventricular block caused by LMNA gene defects. Virchows Arch 2003;443:664-71.
6. Kärkkäinen S, Heliö T, Miettinen R, et al. A novel mutation, Ser143Pro, in the lamin A/C gene is common in Finnish patients with familial dilated cardiomyopathy. Eur Heart J 2004;25:885-93.