Primary Myocardial Dysfunction in Autosomal Dominant EDMD. A Tissue Doppler and Cardiovascular Magnetic Resonance Study

Author:

Smith Gillian,Kinali Maria,Prasad Sanjay,Bonne Gisèle,Muntoni Francesco,Pennell Dudley,Nihoyannopoulos Petros

Publisher

Informa UK Limited

Subject

Cardiology and Cardiovascular Medicine,Radiology, Nuclear Medicine and imaging,Radiological and Ultrasound Technology

Reference49 articles.

1. Bonne, G and Mercuri, E and Muchir, A and Urtizberea, A and Becane, H and Recan, D and Merlini, L and Wehnert, M and Boor, R and Reuner, U and Vorgerd, M and Wicklein, E and Eymard, B and Duboc, D and Penisson-Besnier, I and Cuisset, J and Ferrer, X and Desguerre, I and Lacombe, D and Bushby, K and Pollitt, C and Toniolo, D and Fardeau, M and Schwartz, K and Muntoni, F. (2000) Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene Ann Neurol, 48, pp. 170 - 80. [INFOTRIEVE][CSA]

2. Bonne, G and Di Barletta, M and Varnous, S and Becane, H and Hammouda, E and Merlini, L and Muntoni, F and Greenberg, C and Gary, F and Urtizberea, J and Duboc, D and Fardeau, M and Toniolo, D and Schwartz, K. (1999) Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy Nat Genet, 21, pp. 285 - 8. [INFOTRIEVE][CSA][CROSSREF]

3. Raffaele, D and Barletta, M and Ricci, E and Galluzzi, G and Tonali, P and Mora, M and Morandi, L and Romorini, A and Voit, T and Orstavik, K and Merlini, L and Trevisan, C and Biancalana, V and Housmanowa-Petrusewicz, I and Bione, S and Ricotti, R and Schwartz, K and Bonne, G and Toniolo, D. (2000) Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy Am J Hum Genet, 66, pp. 1407 - 12. [CSA][CROSSREF]

4. Mercuri, E and Poppe, M and Quinlivan, R and Messina, S and Kinali, M and Demay, L and Bourke, J and Richard, P and Sewry, C and Pike, M and Bonne, G and Muntoni, F and Bushby, K. (2004) Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant Arch Neurol, 61, pp. 690 - 4. [INFOTRIEVE][CSA][CROSSREF]

5. Wehnert, M and Bonne, G. (2002) The nuclear muscular dystrophies Semin Pediatr Neurol, 9, pp. 100 - 7. [INFOTRIEVE][CSA][CROSSREF]

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