Dystrophinopathies
作者： Basil T. Darras , Caroline C. Menache-Starobinski , Veronica Hinton , Louis M. Kunkel
DOI: 10.1016/B978-0-12-417044-5.00030-5
关键词:
摘要: Dystrophinopathies result from mutations of the DMD gene that primarily affect skeletal muscle but also heart, brain, and smooth muscle. Advances in genetic analysis these disorders have improved diagnosis counseling are leading to effective therapies. This chapter details factors underlying etiology pathogenesis dystrophinopathies, discusses heterogeneous clinical presentations seen both males females. The differential appropriate diagnostic testing strategies itemized.
elsevier.com
sci-hub.se 参考文章(358)
P Romitti, S Puzhankara, K Mathews, G Zamba, C Cunniff, J Andrews, D Matthews, K James, L Miller, C Druschel, D Fox, S Pandya, E Ciafaloni, M Adams, D Mandel, N Street, L Ouyang, C Constantin, P Costa, Prevalence of Duchenne/Becker muscular dystrophy among males aged 5-24 years–Four states, 2007 Morbidity and Mortality Weekly Report. ,vol. 58, pp. 1119- 1122 ,(2009)
Luigia Passamano, Taglia A, Alberto Palladino, Emanuela Viggiano, PAOLA D'ambrosio, Scutifero M, Maria Rosaria Cecio, Vito Torre, Francesco De Luca, Picillo E, Orlando Paciello, Piluso G, Gerardo Nigro, Politano L, Improvement of survival in Duchenne Muscular Dystrophy: retrospective analysis of 835 patients Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases. ,vol. 31, pp. 121- 125 ,(2012)
Kiichi Arahata, Alan H. Beggs, Eric P. Hoffman, Hideo Sugita, Linda Specht, Corrado Angelini, Louis M. Kunkel, Frederic Shapiro, Judith R. Snyder, Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. American Journal of Human Genetics. ,vol. 49, pp. 54- 67 ,(1991)
Sidney B. Rosalki, Serum enzymes in disease of skeletal muscle Clinics in Laboratory Medicine. ,vol. 9, pp. 767- 781 ,(1989) , 10.1016/S0272-2712(18)30604-8
G Karpati, Recent developments in the biology of dystrophin and related molecules. Current opinion in neurology and neurosurgery. ,vol. 5, pp. 615- 621 ,(1992)
R Mutani, L Chiadò-Piat, I Bosone, L Palmucci, T Mongini, C Doriguzzi, I Ugo, S Bortolotto, Late onset and very mild course of Xp21 Becker type muscular dystrophy. Clinical Neuropathology. ,vol. 20, pp. 196- 199 ,(2001)
T M Nguyen, G E Morris, Use of epitope libraries to identify exon-specific monoclonal antibodies for characterization of altered dystrophins in muscular dystrophy. American Journal of Human Genetics. ,vol. 52, pp. 1057- 1066 ,(1993)
T R Helliwell, J M Ellis, G E Morris, R C Mountford, R E Appleton, A truncated dystrophin lacking the C-terminal domains is localized at the muscle membrane. American Journal of Human Genetics. ,vol. 50, pp. 508- 514 ,(1992)
Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction. A multicenter study. JAMA. ,vol. 267, pp. 2609- 2615 ,(1992) , 10.1001/JAMA.1992.03480190051030
Francke U, Distèche C, Pagon Ra, de Martinville B, Pearson Pl, Ochs Hd, van Ommen Gj, Hofker Mh, Lindgren, Giacalone J, Minor Xp21 chromosome deletion in a male associated with expression of duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome American Journal of Human Genetics. ,vol. 37, pp. 250- 267 ,(1985)