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.
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 . .
