RT-151
|
Genetic screening of different forms of congenital cardiomyopathies
|
|
|
Domenico A. Coviello.
Servizio di Genetica Medica, Policlinico Universitario di Modena, Modena, Italy
|
|
References
|
1.
|
BRIGDEN W:
Uncommon myocardial disease: the non-coronary cardiomyo-pathies.
Lancet 1957; 2: 1179-1184.
|
2.
|
WHO/ICSF TASK FORCE:
Report of the WHO/ICSF Task Force on the definition and classification of cardiomyopathies.
Br Heart J 1980; 44: 672-673.
|
3.
|
WHO/ICSF TASK FORCE:
Report of the 1995 WHO/ICSF Task Force on the definition and classification of cardiomyopathies.
Circulation 1996; 93: 841-842.
|
4.
|
GEISTERFER-LOWRANCE AAT, KASS S, TANIGAWA G, ET AL:
A molecular basis for familial hypertrophic cardiomyopathy: an alpha-beta cardiac myosin heavy chain gene missense mutation.
Cell 1990; 62: 999-1006.
|
5.
|
THIERFELDER L, WATKINS H, MACRAE C, ET AL:
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.
Cell 1994; 77: 701-712.
|
6.
|
WATKINS H, CONNER D, THIERFELDER L, ET AL:
Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy.
Nature Genetics 1995; 11: 434-437.
|
7.
|
CARRIER L, BONNE G, BAHREND E, ET AL:
Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy.
Circ Res 1997; 80: 427-434.
|
8.
|
NIIMURA H, BACHINSKI LL, SANGWATANAROJ S, ET AL:
Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy.
N Engl J Med 1998; 338: 1248-1257.
|
9.
|
BONNE G, CARRIER L, BERCOVICI J, ET AL:
Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy.
Nature Genetics 1995; 11: 438-440.
|
10.
|
MACRAE CA, GHAISAS N, KASS S, ET AL:
Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3.
J Clin Invest 1995; 96: 1216-1220.
|
11.
|
KIMURA A, HARADA H, PARK J-E, ET AL:
Mutation in the cardiac troponin I associated with hypertrophic cardiomyopathy.
Nature Genetics 1997; 16: 379-382.
|
12.
|
POETTER K, JIANG H, HASSANZADEH S, ET AL:
Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.
Nature Genetics 1996; 13: 63-69.
|
13.
|
FLAVIGNY J, RICHARD P, ISNARD R, ET AL:
Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy.
J Mol Med 1998; 76: 208-214.
|
14.
|
SATOH M, TAKAMASHI M, SAKAMOTO T, HIROE M, MARUMO F, KIMURA A:
Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene.
Biochem Biophys Res Commun 1999; 262: 411-417.
|
15.
|
MOGENSEN J, KLAUSE IC, PEDERSEN AK, ET AL:
Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy.
J Clin Invest 1999; 103: R39-R43.
|
16.
|
YU B, FRENCH JA, JEREMY RW, ET AL:
Counselling issues in familial hypertrophic cardiomyopathy.
J Med Genet 1998; 35: 183-188.
|