Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy

1997
Аутори
Muntoni, FDi 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

Чланак у часопису (Објављена верзија)

Метаподаци
Приказ свих података о документуАпстракт
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.
Кључне речи:
dilated cardiomyopathy / dystrophin / Becker muscular dystrophyИзвор:
Heart, 1997, 78, 6, 608-612Издавач:
- British Med Journal Publ Group, London
DOI: 10.1136/hrt.78.6.608
ISSN: 1355-6037
PubMed: 9470882
WoS: 000071068200024
Scopus: 2-s2.0-14444268277
Колекције
Институција/група
Stomatološki fakultetTY - 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 . .