Literature DB >> 11879882

The muscular dystrophies.

Alan E H Emery1.   

Abstract

The muscular dystrophies are inherited myogenic disorders characterised by progressive muscle wasting and weakness of variable distribution and severity. They can be subdivided into several groups, including congenital forms, in accordance with the distribution of predominant muscle weakness: Duchenne and Becker; Emery-Dreifuss; distal; facioscapulohumeral; oculopharyngeal; and limb-girdle which is the most heterogeneous group. In several dystrophies the heart can be seriously affected, sometimes in the absence of clinically significant weakness. The genes and their protein products that cause most of these disorders have now been identified. This information is essential to establish an accurate diagnosis and for reliable genetic counselling and prenatal diagnosis. There is, as yet, no way of greatly affecting the long-term course of any of these diseases. However, advances in gene manipulation and stem-cell therapy suggest cautious optimism for finding an effective treatment in the not-too-distant future.

Entities:  

Mesh:

Year:  2002        PMID: 11879882     DOI: 10.1016/S0140-6736(02)07815-7

Source DB:  PubMed          Journal:  Lancet        ISSN: 0140-6736            Impact factor:   79.321


  479 in total

1.  Dystrophin immunity in Duchenne's muscular dystrophy.

Authors:  Jerry R Mendell; Katherine Campbell; Louise Rodino-Klapac; Zarife Sahenk; Chris Shilling; Sarah Lewis; Dawn Bowles; Steven Gray; Chengwen Li; Gloria Galloway; Vinod Malik; Brian Coley; K Reed Clark; Juan Li; Xiao Xiao; Jade Samulski; Scott W McPhee; R Jude Samulski; Christopher M Walker
Journal:  N Engl J Med       Date:  2010-10-07       Impact factor: 91.245

2.  Long-term restoration of cardiac dystrophin expression in golden retriever muscular dystrophy following rAAV6-mediated exon skipping.

Authors:  Lawrence T Bish; Meg M Sleeper; Sean C Forbes; Bingjing Wang; Caryn Reynolds; Gretchen E Singletary; Dennis Trafny; Kevin J Morine; Julio Sanmiguel; Sylvain Cecchini; Tamas Virag; Adeline Vulin; Cyriaque Beley; Janet Bogan; James M Wilson; Krista Vandenborne; Joe N Kornegay; Glenn A Walter; Robert M Kotin; Luis Garcia; H Lee Sweeney
Journal:  Mol Ther       Date:  2011-12-06       Impact factor: 11.454

Review 3.  Animal models of muscular dystrophy.

Authors:  Rainer Ng; Glen B Banks; John K Hall; Lindsey A Muir; Julian N Ramos; Jacqueline Wicki; Guy L Odom; Patryk Konieczny; Jane Seto; Joel R Chamberlain; Jeffrey S Chamberlain
Journal:  Prog Mol Biol Transl Sci       Date:  2012       Impact factor: 3.622

Review 4.  The origin and fate of muscle satellite cells.

Authors:  Arif Aziz; Soji Sebastian; F Jeffrey Dilworth
Journal:  Stem Cell Rev Rep       Date:  2012-06       Impact factor: 5.739

5.  Occult left ventricular dysfunction diagnosed by myocardial performance index in patients with limb girdle muscle dystrophy: A case control study.

Authors:  Rajashekar R Gurrala; Venkata Mb Alla; Wilbert S Aronow; Jai S Shankar; Meena K Angamutta; Krishna Lanka; Sundaram Challa; Chandra K Nair
Journal:  Int J Angiol       Date:  2007

6.  Neuromuscular junction formation between human stem cell-derived motoneurons and human skeletal muscle in a defined system.

Authors:  Xiufang Guo; Mercedes Gonzalez; Maria Stancescu; Herman H Vandenburgh; James J Hickman
Journal:  Biomaterials       Date:  2011-09-23       Impact factor: 12.479

7.  A national profile of health care and family impacts of children with muscular dystrophy and special health care needs in the United States.

Authors:  Lijing Ouyang; Scott D Grosse; Michael H Fox; Julie Bolen
Journal:  J Child Neurol       Date:  2011-09-27       Impact factor: 1.987

8.  Orai1 deficiency leads to heart failure and skeletal myopathy in zebrafish.

Authors:  Mirko Völkers; Nima Dolatabadi; Natalie Gude; Patrick Most; Mark A Sussman; David Hassel
Journal:  J Cell Sci       Date:  2012-02-02       Impact factor: 5.285

9.  Whole dystrophin gene analysis by next-generation sequencing: a comprehensive genetic diagnosis of Duchenne and Becker muscular dystrophy.

Authors:  Yan Wang; Yao Yang; Jing Liu; Xiao-Chun Chen; Xin Liu; Chun-Zhi Wang; Xi-Yu He
Journal:  Mol Genet Genomics       Date:  2014-04-27       Impact factor: 3.291

10.  Amelioration of laminin-alpha2-deficient congenital muscular dystrophy by somatic gene transfer of miniagrin.

Authors:  Chunping Qiao; Jianbin Li; Tong Zhu; Romesh Draviam; Simon Watkins; Xiaojing Ye; Chunlian Chen; Juan Li; Xiao Xiao
Journal:  Proc Natl Acad Sci U S A       Date:  2005-08-15       Impact factor: 11.205

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.