Mutation scanning for nearly all mutation types in 109 individuals diagnosed with Xp21 muscular dystrophy
Tags: ABSTRACTS; DYSTROPHY -- Abstracts
Related Articles
- Becker and Duchenne Muscular Dystrophy (BMD, DMD) are associated with myocardial fibrosis and abnormal cardiac energetics even in the presence of normal left ventricular ejection fraction. // Journal of Cardiovascular Magnetic Resonance (BioMed Central);2010 Supplement 1, Vol. 12, p1
An abstract of the article "Becker and Duchenne Muscular Dystrophy (BMD, DMD) are associated with myocardial fibrosis and abnormal cardiac energetics even in the presence of normal left ventricular ejection fraction," by Joseph J. Suttie, Sairia Dass, Colin Forfar, and colleagues is presented.
- Two center study to assess the functional relevance of myocardial fibrosis in muscular dystrophy patients with and without left ventricular systolic dysfunction. // Journal of Cardiovascular Magnetic Resonance (BioMed Central);2010 Supplement 1, Vol. 12, p1
An abstract of the article "Two center study to assess the functional relevance of myocardial fibrosis in muscular dystrophy patients with and without left ventricular systolic dysfunction," by Joseph J. Suttie, Ali Yilmaz, Sairia Dass, Theodoros D. Karamitsos, Jane M. Francis, Colin Forfar,...
- 820. Highly Efficient Exon-Skipping and Sustained Correction of Muscular Dystrophy Using an Adeno-Associated Viral Vector. Goyenvalle, Aurelie; Vulin, Adeline; Kaplan, Jean Claude; Leturcq, France; Danos, Olivier; Garcia, Luis // Molecular Therapy;Jun2005, Vol. 11, p319
An abstract of the article "Highly Efficient Exon-Skipping and Sustained Correction of Muscular Dystrophy Using an Adeno-Associated Viral Vector," by Aurelie Goyenvalle, Adeline Vulin, Jean Claude Kaplan, France Leturcq, Olivier Danos and Luis Garcia is presented.
- 916. Sustained Whole-Body Functional Rescue by Systemic Delivery of AAV8 Vectors in Heart Failure and Muscular Dystrophy Hamsters. Zhu, Tong; Zhou, Liqiao; Mori, Satsuki; Wang, Zhong; Mctiernan, Charles; Qiao, Chunping; Chen, Chunlian; Wang, Daowen; Li, Juan; Xiao, Xiao // Molecular Therapy;Jun2005, Vol. 11, p354
An abstract of the article "Sustained Whole-Body Functional Rescue by Systemic Delivery of AAV8 Vectors in Heart Failure and Muscular Dystrophy Hamsters," by Tong Zhu and colleagues is presented.
- Presence of late gadolinium enhancement in Duchenne muscular dystrophy patients is associated with age and global ventricular function. Hor, Kan N.; Cripe, Linda; Madueme, Peace; Ryan, Thomas D.; Mazur, Wojciech; Al-Khalidi, Hussein; Raman, Subha V.; Sticka, Joshua; Jefferies, John L.; Benson, D. Woodrow; Taylor, Michael // Journal of Cardiovascular Magnetic Resonance (BioMed Central);2012 Supplement, Vol. 14 Issue Suppl 1, p1
An abstract of the article "Presence of late gadolinium enhancement in Duchenne muscular dystrophy patients is associated with age and global ventricular function," by Kan N. Hor and colleagues is presented.
- Novel mutations in the CYP4v2 gene associated with Bietti crystalline corneoretinal dystrophy. // Journal of Medical Genetics;Sep2007 Supplement 1, Vol. 44, pS100
An abstract of the study "Novel mutations in the CYP4v2 gene associated with Bietti crystalline corneoretinal dystrophy" is presented.
- Mutation detection in a large cohort of muscular dystrophy patients widens the clinical spectrum associated with dystroglycanopathy genes. // Journal of Medical Genetics;Sep2006 Supplement, Vol. 43, pS84
An abstract of the article "Mutation detection in a large cohort of muscular dystrophy patients widens the clinical spectrum associated with dystroglycanopathy genes," by Caroline Godfrey, R. Mein, C. Jimenez-Mallebrera, L. Feng, M. Brockington, F. Muntoni and S. Abbs is presented.
- The Experiences of Predictive Testing for Myotonic Dystrophy. // Journal of Medical Genetics;Sep2006 Supplement, Vol. 43, pS108
An abstract of the article "The Experiences of Predictive Testing for Myotonic Dystrophy," by Anita Bruce is presented.
- 100 Reduced inotropic reserve is predictive of further degradation in Duchenne Muscular Dystrophy. // European Journal of Heart Failure. Supplements;Jun2005, Vol. 4 Issue 1, p22
An abstract of the study "Reduced inotropic reserve is predictive of further degradation in Duchenne Muscular Dystrophy," by C. Meune et al, is presented.


