TY  - JOUR
AU  - Mestroni, L
AU  - Milašin, Jelena
AU  - Vatta, M
AU  - Pinamonti, B
AU  - Sinagra, G
AU  - Rocco, C
AU  - Matulić, M
AU  - Falaschi, A
AU  - Giacca, M.
AU  - Camerini, F
PY  - 1996
UR  - https://smile.stomf.bg.ac.rs/handle/123456789/1070
AB  - Recent studies have demonstrated that genetic factors are likely to play a major role in the pathogenesis of idiopathic dilated cardiomyopathy (IDC), In clinical surveys, a familial trait has been demonstrated in 20 to 30% of idiopathic dilated cardiomyopathy patients (familial dilated cardiomyopathy), Molecular genetic studies have confirmed the clinical hypothesis of genetic heterogeneity in familial dilated cardiomyopathy, and are currently producing relevant advances in the understanding of this disease, The autosomal dominant form is considered to be the most frequent form of inherited idiopathic dilated cardiomyopathy. After the exclusion of a large series of candidate genes, the first familial dilated cardiomyopathy gene has been mapped to the long arm of chromosome 9, A second locus has been found on chromosome 1, Moreover, in two large families, characterized by a peculiar form of conduction delays and later development of myocardial dysfunction, the disease loci have been mapped to chromosome 1 and 3, respectively, The identification of the disease genes is in progress, In families with X-linked dilated cardiomyopathy, the disease gene has been identified as the dystrophin gene, The 5' end of the gene appears to be the critical region for the development of dilated cardiomyopathy without clinical evidence of muscle dystrophy. Furthermore, other cytoskeletal proteins, such as adhalin, could be involved in the pathogenesis of familial dilated cardiomyopathy, In familial right ventricular cardiomyopathy (or arrhythmogenic right ventricular dysplasia) characterized by isolated or prevalent right ventricular involvement, three different disease loci have been identified so far : two localized on the long arm of chromosome 14 and one on chromosome 1. The disease genes are still unknown and are currently under investigation, The study of the genetic factors at the molecular level is starting to elucidate the pathogenetic mechanisms of idiopathic dilated cardiomyopathy, These findings will also have relevant clinical and therapeutic implications.
PB  - J B Bailliere, Paris
T2  - Archives des Maladies du Coeur et des Vaisseaux
T1  - Genetic factors in dilated cardiomyopathy
VL  - 89
SP  - 15
EP  - 20
UR  - https://hdl.handle.net/21.15107/rcub_smile_1070
ER  - 

@article{
author = "Mestroni, L and Milašin, Jelena and Vatta, M and Pinamonti, B and Sinagra, G and Rocco, C and Matulić, M and Falaschi, A and Giacca, M. and Camerini, F",
year = "1996",
abstract = "Recent studies have demonstrated that genetic factors are likely to play a major role in the pathogenesis of idiopathic dilated cardiomyopathy (IDC), In clinical surveys, a familial trait has been demonstrated in 20 to 30% of idiopathic dilated cardiomyopathy patients (familial dilated cardiomyopathy), Molecular genetic studies have confirmed the clinical hypothesis of genetic heterogeneity in familial dilated cardiomyopathy, and are currently producing relevant advances in the understanding of this disease, The autosomal dominant form is considered to be the most frequent form of inherited idiopathic dilated cardiomyopathy. After the exclusion of a large series of candidate genes, the first familial dilated cardiomyopathy gene has been mapped to the long arm of chromosome 9, A second locus has been found on chromosome 1, Moreover, in two large families, characterized by a peculiar form of conduction delays and later development of myocardial dysfunction, the disease loci have been mapped to chromosome 1 and 3, respectively, The identification of the disease genes is in progress, In families with X-linked dilated cardiomyopathy, the disease gene has been identified as the dystrophin gene, The 5' end of the gene appears to be the critical region for the development of dilated cardiomyopathy without clinical evidence of muscle dystrophy. Furthermore, other cytoskeletal proteins, such as adhalin, could be involved in the pathogenesis of familial dilated cardiomyopathy, In familial right ventricular cardiomyopathy (or arrhythmogenic right ventricular dysplasia) characterized by isolated or prevalent right ventricular involvement, three different disease loci have been identified so far : two localized on the long arm of chromosome 14 and one on chromosome 1. The disease genes are still unknown and are currently under investigation, The study of the genetic factors at the molecular level is starting to elucidate the pathogenetic mechanisms of idiopathic dilated cardiomyopathy, These findings will also have relevant clinical and therapeutic implications.",
publisher = "J B Bailliere, Paris",
journal = "Archives des Maladies du Coeur et des Vaisseaux",
title = "Genetic factors in dilated cardiomyopathy",
volume = "89",
pages = "15-20",
url = "https://hdl.handle.net/21.15107/rcub_smile_1070"
}

Mestroni, L., Milašin, J., Vatta, M., Pinamonti, B., Sinagra, G., Rocco, C., Matulić, M., Falaschi, A., Giacca, M.,& Camerini, F.. (1996). Genetic factors in dilated cardiomyopathy. in Archives des Maladies du Coeur et des Vaisseaux
J B Bailliere, Paris., 89, 15-20.
https://hdl.handle.net/21.15107/rcub_smile_1070

Mestroni L, Milašin J, Vatta M, Pinamonti B, Sinagra G, Rocco C, Matulić M, Falaschi A, Giacca M, Camerini F. Genetic factors in dilated cardiomyopathy. in Archives des Maladies du Coeur et des Vaisseaux. 1996;89:15-20.
https://hdl.handle.net/21.15107/rcub_smile_1070 .

Mestroni, L, Milašin, Jelena, Vatta, M, Pinamonti, B, Sinagra, G, Rocco, C, Matulić, M, Falaschi, A, Giacca, M., Camerini, F, "Genetic factors in dilated cardiomyopathy" in Archives des Maladies du Coeur et des Vaisseaux, 89 (1996):15-20,
https://hdl.handle.net/21.15107/rcub_smile_1070 .

TY  - JOUR
AU  - Milašin, Jelena
AU  - Muntoni, F
AU  - Severini, GM
AU  - Bartoloni, L
AU  - Vatta, M
AU  - Krajinović, Maja
AU  - Mateddu, A
AU  - Angelini, C
AU  - Camerini, F
AU  - Falaschi, A
AU  - Mestroni, L
AU  - Giacca, M.
AU  - Pinamonti, B
AU  - Sinagra, G
AU  - Di Lenarda, A
AU  - Silvestri, F
AU  - Bussani, R
AU  - Davanzo, M
PY  - 1996
UR  - https://smile.stomf.bg.ac.rs/handle/123456789/1066
AB  - X-linked dilated cardiomyopathy (XLDC) is a familial heart disease presenting in young males as a rapidly progressive congestive heart failure, without clinical signs of skeletal myopathy. This condition has recently been linked to the dystrophin gene in some families and deletions encompassing the genomic region coding for the first muscle exon have been detected. In order to identify the defect responsible for this disease at the molecular level and to understand the reasons for the selective heart involvement, a family with a severe form of XLDC was studied. In the affected members, no deletions of the dystrophin gene were observed. Analysis of the muscle promoter, first exon and intron regions revealed the presence of a single point mutation at the first exon-intron boundary, inactivating the universally conserved 5' splice site consensus sequence of the first intron. This mutation introduced a new restriction site for Msel, which cosegregates with the disease in the analyzed family. Expression of the major dystrophin mRNA isoforms (from the muscle-, brain- and Purkinje cell-promoters) was completely abolished in the myocardium, while the brain- and Purkinje cell- (but not the muscle-) isoforms were detectable in the skeletal muscle. Immunocytochemical studies with anti-dystrophin antibodies showed that the protein was reduced in quantity but normally distributed in the skeletal muscle, while it was undetectable in the cardiac muscle. These findings indicate that expression of the muscle dystrophin isoform is critical for myocardial function and suggest that selective heart involvement in dystrophin-linked dilated cardiomyopathy is related to the absence, in the heart, of a compensatory expression of dystrophin from alternative promoters.
PB  - Oxford Univ Press United Kingdom, Oxford
T2  - Human Molecular Genetics
T1  - A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy
VL  - 5
IS  - 1
SP  - 73
EP  - 79
DO  - 10.1093/hmg/5.1.73
ER  - 

@article{
author = "Milašin, Jelena and Muntoni, F and Severini, GM and Bartoloni, L and Vatta, M and Krajinović, Maja and Mateddu, A and Angelini, C and Camerini, F and Falaschi, A and Mestroni, L and Giacca, M. and Pinamonti, B and Sinagra, G and Di Lenarda, A and Silvestri, F and Bussani, R and Davanzo, M",
year = "1996",
abstract = "X-linked dilated cardiomyopathy (XLDC) is a familial heart disease presenting in young males as a rapidly progressive congestive heart failure, without clinical signs of skeletal myopathy. This condition has recently been linked to the dystrophin gene in some families and deletions encompassing the genomic region coding for the first muscle exon have been detected. In order to identify the defect responsible for this disease at the molecular level and to understand the reasons for the selective heart involvement, a family with a severe form of XLDC was studied. In the affected members, no deletions of the dystrophin gene were observed. Analysis of the muscle promoter, first exon and intron regions revealed the presence of a single point mutation at the first exon-intron boundary, inactivating the universally conserved 5' splice site consensus sequence of the first intron. This mutation introduced a new restriction site for Msel, which cosegregates with the disease in the analyzed family. Expression of the major dystrophin mRNA isoforms (from the muscle-, brain- and Purkinje cell-promoters) was completely abolished in the myocardium, while the brain- and Purkinje cell- (but not the muscle-) isoforms were detectable in the skeletal muscle. Immunocytochemical studies with anti-dystrophin antibodies showed that the protein was reduced in quantity but normally distributed in the skeletal muscle, while it was undetectable in the cardiac muscle. These findings indicate that expression of the muscle dystrophin isoform is critical for myocardial function and suggest that selective heart involvement in dystrophin-linked dilated cardiomyopathy is related to the absence, in the heart, of a compensatory expression of dystrophin from alternative promoters.",
publisher = "Oxford Univ Press United Kingdom, Oxford",
journal = "Human Molecular Genetics",
title = "A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy",
volume = "5",
number = "1",
pages = "73-79",
doi = "10.1093/hmg/5.1.73"
}

Milašin, J., Muntoni, F., Severini, G., Bartoloni, L., Vatta, M., Krajinović, M., Mateddu, A., Angelini, C., Camerini, F., Falaschi, A., Mestroni, L., Giacca, M., Pinamonti, B., Sinagra, G., Di Lenarda, A., Silvestri, F., Bussani, R.,& Davanzo, M.. (1996). A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy. in Human Molecular Genetics
Oxford Univ Press United Kingdom, Oxford., 5(1), 73-79.
https://doi.org/10.1093/hmg/5.1.73

Milašin J, Muntoni F, Severini G, Bartoloni L, Vatta M, Krajinović M, Mateddu A, Angelini C, Camerini F, Falaschi A, Mestroni L, Giacca M, Pinamonti B, Sinagra G, Di Lenarda A, Silvestri F, Bussani R, Davanzo M. A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy. in Human Molecular Genetics. 1996;5(1):73-79.
doi:10.1093/hmg/5.1.73 .

Milašin, Jelena, Muntoni, F, Severini, GM, Bartoloni, L, Vatta, M, Krajinović, Maja, Mateddu, A, Angelini, C, Camerini, F, Falaschi, A, Mestroni, L, Giacca, M., Pinamonti, B, Sinagra, G, Di Lenarda, A, Silvestri, F, Bussani, R, Davanzo, M, "A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy" in Human Molecular Genetics, 5, no. 1 (1996):73-79,
https://doi.org/10.1093/hmg/5.1.73 . .

TY  - CONF
AU  - Mestroni, L
AU  - Muntoni, F
AU  - Milašin, Jelena
AU  - Di Lenarda, A
AU  - Sinagra, G
AU  - Rocco, C
AU  - Vatta, M
AU  - Matulić, M
AU  - Falaschi, A
AU  - Camerini, F
AU  - Giacca, M.
PY  - 1996
UR  - https://smile.stomf.bg.ac.rs/handle/123456789/1062
PB  - Amer Heart Assoc, Dallas
C3  - Circulation
T1  - Familial dilated cardiomyopathy with subclinical skeletal muscle involvement
VL  - 94
IS  - 8
SP  - 1582
EP  - 1582
UR  - https://hdl.handle.net/21.15107/rcub_smile_1062
ER  - 

@conference{
author = "Mestroni, L and Muntoni, F and Milašin, Jelena and Di Lenarda, A and Sinagra, G and Rocco, C and Vatta, M and Matulić, M and Falaschi, A and Camerini, F and Giacca, M.",
year = "1996",
publisher = "Amer Heart Assoc, Dallas",
journal = "Circulation",
title = "Familial dilated cardiomyopathy with subclinical skeletal muscle involvement",
volume = "94",
number = "8",
pages = "1582-1582",
url = "https://hdl.handle.net/21.15107/rcub_smile_1062"
}

Mestroni, L., Muntoni, F., Milašin, J., Di Lenarda, A., Sinagra, G., Rocco, C., Vatta, M., Matulić, M., Falaschi, A., Camerini, F.,& Giacca, M.. (1996). Familial dilated cardiomyopathy with subclinical skeletal muscle involvement. in Circulation
Amer Heart Assoc, Dallas., 94(8), 1582-1582.
https://hdl.handle.net/21.15107/rcub_smile_1062

Mestroni L, Muntoni F, Milašin J, Di Lenarda A, Sinagra G, Rocco C, Vatta M, Matulić M, Falaschi A, Camerini F, Giacca M. Familial dilated cardiomyopathy with subclinical skeletal muscle involvement. in Circulation. 1996;94(8):1582-1582.
https://hdl.handle.net/21.15107/rcub_smile_1062 .

Mestroni, L, Muntoni, F, Milašin, Jelena, Di Lenarda, A, Sinagra, G, Rocco, C, Vatta, M, Matulić, M, Falaschi, A, Camerini, F, Giacca, M., "Familial dilated cardiomyopathy with subclinical skeletal muscle involvement" in Circulation, 94, no. 8 (1996):1582-1582,
https://hdl.handle.net/21.15107/rcub_smile_1062 .