Therapeutic Advances in Muscular Dystrophy

被引：56
作者：
Leung, Doris G. [1 ,2 ]
Wagner, Kathryn R. [1 ,2 ,3 ]
机构：
[1] Johns Hopkins Sch Med, Kennedy Krieger Inst, Ctr Genet Muscle Disorders, Baltimore, MD USA
[2] Johns Hopkins Sch Med, Dept Neurol, Baltimore, MD USA
[3] Johns Hopkins Sch Med, Dept Neurosci, Baltimore, MD USA
来源：
ANNALS OF NEUROLOGY | 2013年 / 74卷 / 03期
关键词：
3 UNTRANSLATED REGION; MDX MOUSE MODEL; MYOTONIC-DYSTROPHY; SKELETAL-MUSCLE; CTG REPEAT; DNA REARRANGEMENTS; NONSENSE MUTATION; HUMAN MYOBLASTS; EXPANSION SIZE; MESSENGER-RNA;
D O I：
10.1002/ana.23989
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
The muscular dystrophies comprise a heterogeneous group of genetic disorders that produce progressive skeletal muscle weakness and wasting. There has been rapid growth and change in our understanding of these disorders in recent years, and advances in basic science are being translated into increasing numbers of clinical trials. This review will discuss therapeutic developments in 3 of the most common forms of muscular dystrophy: Duchenne muscular dystrophy, facioscapulohumeral muscular dystrophy, and myotonic dystrophy. Each of these disorders represents a different class of genetic disease (monogenic, epigenetic, and repeat expansion disorders), and the approach to therapy addresses the diverse and complex molecular mechanisms involved in these diseases. The large number of novel pharmacologic agents in development with good biologic rationale and strong proof of concept suggests there will be an improved quality of life for individuals with muscular dystrophy. Ann Neurol 2013;74:404-411
引用
收藏
页码：404 / 411
页数：8
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共 100 条
  • [1] Exercise in Neuromuscular Diseases
    Abresch, R. Ted
    Carter, Gregory T.
    Han, Jay J.
    McDonald, Craig M.
    [J]. PHYSICAL MEDICINE AND REHABILITATION CLINICS OF NORTH AMERICA, 2012, 23 (03) : 653 - +
  • [2] Sildenafil reverses cardiac dysfunction in the mdx mouse model of Duchenne muscular dystrophy
    Adamo, Candace M.
    Dai, Dao-Fu
    Percival, Justin M.
    Minami, Elina
    Willis, Monte S.
    Patrucco, Enrico
    Froehner, Stanley C.
    Beavo, Joseph A.
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2010, 107 (44) : 19079 - 19083
  • [3] Exercise in neuromuscular disease
    Anziska, Yaacov
    Sternberg, Alex
    [J]. MUSCLE & NERVE, 2013, 48 (01) : 3 - 20
  • [4] Mechanism of PTC124 activity in cell-based luciferase assays of nonsense codon suppression
    Auld, Douglas S.
    Thorne, Natasha
    Maguire, William F.
    Inglese, James
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2009, 106 (09) : 3585 - 3590
  • [5] Ayme S, 2011, ORPHANET REPORT SERI, V1, P1
  • [6] Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice
    Barton-Davis, ER
    Cordier, L
    Shoturma, DI
    Leland, SE
    Sweeney, HL
    [J]. JOURNAL OF CLINICAL INVESTIGATION, 1999, 104 (04) : 375 - 381
  • [7] Proinflammatory Macrophages Enhance the Regenerative Capacity of Human Myoblasts by Modifying Their Kinetics of Proliferation and Differentiation
    Bencze, Maximilien
    Negroni, Elisa
    Vallese, Denis
    Yacoub-Youssef, Houda
    Chaouch, Soraya
    Wolff, Annie
    Aamiri, Ahmed
    Di Santo, James P.
    Chazaud, Benedicte
    Butler-Browne, Gillian
    Savino, Wilson
    Mouly, Vincent
    Riederer, Ingo
    [J]. MOLECULAR THERAPY, 2012, 20 (11) : 2168 - 2179
  • [8] Long-term benefits of deflazacort treatment for boys with Duchenne muscular dystrophy in their second decade
    Biggar, WD
    Harris, VA
    Eliasoph, L
    Alman, B
    [J]. NEUROMUSCULAR DISORDERS, 2006, 16 (04) : 249 - 255
  • [9] The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients
    Botta, A.
    Rinaldi, F.
    Catalli, C.
    Vergani, L.
    Bonifazi, E.
    Romeo, V.
    Loro, E.
    Viola, A.
    Angelini, C.
    Novelli, G.
    [J]. JOURNAL OF MEDICAL GENETICS, 2008, 45 (10) : 639 - 646
  • [10] Phase 1 Gene Therapy for Duchenne Muscular Dystrophy Using a Translational Optimized AAV Vector
    Bowles, Dawn E.
    McPhee, Scott W. J.
    Li, Chengwen
    Gray, Steven J.
    Samulski, Jade J.
    Camp, Angelique S.
    Li, Juan
    Wang, Bing
    Monahan, Paul E.
    Rabinowitz, Joseph E.
    Grieger, Joshua C.
    Govindasamy, Lakshmanan
    Agbandje-McKenna, Mavis
    Xiao, Xiao
    Samulski, R. Jude
    [J]. MOLECULAR THERAPY, 2012, 20 (02) : 443 - 455
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