TY  - JOUR
AU  - Muntoni, F
AU  - Di Lenarda, A
AU  - Porcu, M
AU  - Sinagra, G
AU  - Mateddu, A
AU  - Marrosu, G
AU  - Ferlini, A
AU  - Cau, M
AU  - Milašin, Jelena
AU  - Melis, MA
AU  - Marrosu, MG
AU  - Cianchetti, C
AU  - Sanna, A
AU  - Falaschi, A
AU  - Camerini, F
AU  - Giacca, M.
AU  - Mestroni, L
PY  - 1997
UR  - https://smile.stomf.bg.ac.rs/handle/123456789/1076
AB  - Two new cases of dilated cardiomyopathy (DC) caused by dystrophinopathy are reported. One patient, a 21 year old man, had a family history of X linked DC, while the other, a 52 year old man, had sporadic disease. Each had abnormal dystrophin immunostaining in muscle or cardiac biopsy specimens, but neither had muscle weakness. Serum creatine kinase activity was raised only in the patient with familial disease. Analysis of dystrophin gene mutations showed a deletion of exons 48-49 in the patient with familial DC and of exons 49-51 in the other. Dystrophin transcription in cardiac tissue from the patient with sporadic disease showed abundant expression, predominantly of the muscle isoform. This study, together with previous reports, suggests that some patients with DC have a dystrophinopathy that can be diagnosed using a combination of biochemical and genetic analyses.
PB  - British Med Journal Publ Group, London
T2  - Heart
T1  - Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy
VL  - 78
IS  - 6
SP  - 608
EP  - 612
DO  - 10.1136/hrt.78.6.608
ER  - 

@article{
author = "Muntoni, F and Di Lenarda, A and Porcu, M and Sinagra, G and Mateddu, A and Marrosu, G and Ferlini, A and Cau, M and Milašin, Jelena and Melis, MA and Marrosu, MG and Cianchetti, C and Sanna, A and Falaschi, A and Camerini, F and Giacca, M. and Mestroni, L",
year = "1997",
abstract = "Two new cases of dilated cardiomyopathy (DC) caused by dystrophinopathy are reported. One patient, a 21 year old man, had a family history of X linked DC, while the other, a 52 year old man, had sporadic disease. Each had abnormal dystrophin immunostaining in muscle or cardiac biopsy specimens, but neither had muscle weakness. Serum creatine kinase activity was raised only in the patient with familial disease. Analysis of dystrophin gene mutations showed a deletion of exons 48-49 in the patient with familial DC and of exons 49-51 in the other. Dystrophin transcription in cardiac tissue from the patient with sporadic disease showed abundant expression, predominantly of the muscle isoform. This study, together with previous reports, suggests that some patients with DC have a dystrophinopathy that can be diagnosed using a combination of biochemical and genetic analyses.",
publisher = "British Med Journal Publ Group, London",
journal = "Heart",
title = "Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy",
volume = "78",
number = "6",
pages = "608-612",
doi = "10.1136/hrt.78.6.608"
}

Muntoni, F., Di Lenarda, A., Porcu, M., Sinagra, G., Mateddu, A., Marrosu, G., Ferlini, A., Cau, M., Milašin, J., Melis, M., Marrosu, M., Cianchetti, C., Sanna, A., Falaschi, A., Camerini, F., Giacca, M.,& Mestroni, L.. (1997). Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy. in Heart
British Med Journal Publ Group, London., 78(6), 608-612.
https://doi.org/10.1136/hrt.78.6.608

Muntoni F, Di Lenarda A, Porcu M, Sinagra G, Mateddu A, Marrosu G, Ferlini A, Cau M, Milašin J, Melis M, Marrosu M, Cianchetti C, Sanna A, Falaschi A, Camerini F, Giacca M, Mestroni L. Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy. in Heart. 1997;78(6):608-612.
doi:10.1136/hrt.78.6.608 .

Muntoni, F, Di Lenarda, A, Porcu, M, Sinagra, G, Mateddu, A, Marrosu, G, Ferlini, A, Cau, M, Milašin, Jelena, Melis, MA, Marrosu, MG, Cianchetti, C, Sanna, A, Falaschi, A, Camerini, F, Giacca, M., Mestroni, L, "Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy" in Heart, 78, no. 6 (1997):608-612,
https://doi.org/10.1136/hrt.78.6.608 . .

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 . .