Literature DB >> 16305275

The muscular dystrophies: from genes to therapies.

Richard M Lovering1, Neil C Porter, Robert J Bloch.   

Abstract

The genetic basis of many muscular disorders, including many of the more common muscular dystrophies, is now known. Clinically, the recent genetic advances have improved diagnostic capabilities, but they have not yet provided clues about treatment or management. Thanks to better management strategies and therapeutic interventions, however, many patients with a muscular dystrophy are more active and are living longer. Physical therapists, therefore, are more likely to see a patient with a muscular dystrophy, so understanding these muscle disorders and their management is essential. Physical therapy offers the most promise in caring for the majority of patients with these conditions, because it is unlikely that advances in gene therapy will significantly alter their clinical treatment in the near future. This perspective covers some of the basic molecular biological advances together with the clinical manifestations of the muscular dystrophies and the latest approaches to their management.

Entities:  

Mesh:

Substances:

Year:  2005        PMID: 16305275      PMCID: PMC4496952     

Source DB:  PubMed          Journal:  Phys Ther        ISSN: 0031-9023


  165 in total

1.  Unexpected modes of PDZ domain scaffolding revealed by structure of nNOS-syntrophin complex.

Authors:  B J Hillier; K S Christopherson; K E Prehoda; D S Bredt; W A Lim
Journal:  Science       Date:  1999-04-30       Impact factor: 47.728

Review 2.  Limb contractures in progressive neuromuscular disease and the role of stretching, orthotics, and surgery.

Authors:  C M McDonald
Journal:  Phys Med Rehabil Clin N Am       Date:  1998-02       Impact factor: 1.784

3.  Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy.

Authors:  B Brais; J P Bouchard; Y G Xie; D L Rochefort; N Chrétien; F M Tomé; R G Lafrenière; J M Rommens; E Uyama; O Nohira; S Blumen; A D Korczyn; P Heutink; J Mathieu; A Duranceau; F Codère; M Fardeau; G A Rouleau; A D Korcyn
Journal:  Nat Genet       Date:  1998-02       Impact factor: 38.330

4.  Beneficial effects of voluntary wheel running on the properties of dystrophic mouse muscle.

Authors:  A Hayes; D A Williams
Journal:  J Appl Physiol (1985)       Date:  1996-02

5.  On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy.

Authors:  G W Padberg; O F Brouwer; R J de Keizer; G Dijkman; C Wijmenga; J J Grote; R R Frants
Journal:  Muscle Nerve Suppl       Date:  1995

6.  Nitric oxide synthase I (NOS-I) is deficient in the sarcolemma of striated muscle fibers in patients with Duchenne muscular dystrophy, suggesting an association with dystrophin.

Authors:  Z Grozdanovic; G Gosztonyi; R Gossrau
Journal:  Acta Histochem       Date:  1996-01       Impact factor: 2.479

Review 7.  Calpains and muscular dystrophies.

Authors:  J G Tidball; M J Spencer
Journal:  Int J Biochem Cell Biol       Date:  2000-01       Impact factor: 5.085

Review 8.  The effects of knee-ankle-foot orthoses in the treatment of Duchenne muscular dystrophy: review of the literature.

Authors:  J P Bakker; I J de Groot; H Beckerman; B A de Jong; G J Lankhorst
Journal:  Clin Rehabil       Date:  2000-08       Impact factor: 3.477

9.  Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.

Authors:  Cheryl Longman; Martin Brockington; Silvia Torelli; Cecilia Jimenez-Mallebrera; Colin Kennedy; Nofal Khalil; Lucy Feng; Ravindra K Saran; Thomas Voit; Luciano Merlini; Caroline A Sewry; Susan C Brown; Francesco Muntoni
Journal:  Hum Mol Genet       Date:  2003-09-09       Impact factor: 6.150

10.  The pathomechanics of gait in Duchenne muscular dystrophy.

Authors:  D H Sutherland; R Olshen; L Cooper; M Wyatt; J Leach; S Mubarak; P Schultz
Journal:  Dev Med Child Neurol       Date:  1981-02       Impact factor: 5.449

View more
  25 in total

1.  Structural and functional evaluation of branched myofibers lacking intermediate filaments.

Authors:  Mariah H Goodall; Christopher W Ward; Stephen J P Pratt; Robert J Bloch; Richard M Lovering
Journal:  Am J Physiol Cell Physiol       Date:  2012-05-16       Impact factor: 4.249

2.  Altered nuclear dynamics in MDX myofibers.

Authors:  Shama R Iyer; Sameer B Shah; Ana P Valencia; Martin F Schneider; Erick O Hernández-Ochoa; Joseph P Stains; Silvia S Blemker; Richard M Lovering
Journal:  J Appl Physiol (1985)       Date:  2016-12-15

3.  Plantarflexion contracture in the mdx mouse.

Authors:  Michael W Garlich; Kristen A Baltgalvis; Jarrod A Call; Lisa L Dorsey; Dawn A Lowe
Journal:  Am J Phys Med Rehabil       Date:  2010-12       Impact factor: 2.159

4.  Non-invasive assessment of muscle injury in healthy and dystrophic animals with electrical impedance myography.

Authors:  Benjamin Sanchez; Shama R Iyer; Jia Li; Kush Kapur; Su Xu; Seward B Rutkove; Richard M Lovering
Journal:  Muscle Nerve       Date:  2017-03-24       Impact factor: 3.217

5.  Malformed mdx myofibers have normal cytoskeletal architecture yet altered EC coupling and stress-induced Ca2+ signaling.

Authors:  Richard M Lovering; Luke Michaelson; Christopher W Ward
Journal:  Am J Physiol Cell Physiol       Date:  2009-07-15       Impact factor: 4.249

Review 6.  Eccentric exercise in aging and diseased skeletal muscle: good or bad?

Authors:  Richard M Lovering; Susan V Brooks
Journal:  J Appl Physiol (1985)       Date:  2013-03-07

7.  Sustained dystrophin expression induced by peptide-conjugated morpholino oligomers in the muscles of mdx mice.

Authors:  Natee Jearawiriyapaisarn; Hong M Moulton; Brian Buckley; Jennifer Roberts; Peter Sazani; Suthat Fucharoen; Patrick L Iversen; Ryszard Kole
Journal:  Mol Ther       Date:  2008-06-10       Impact factor: 11.454

8.  Effects of in vivo injury on the neuromuscular junction in healthy and dystrophic muscles.

Authors:  Stephen J P Pratt; Sameer B Shah; Christopher W Ward; Mario P Inacio; Joseph P Stains; Richard M Lovering
Journal:  J Physiol       Date:  2012-10-29       Impact factor: 5.182

9.  Abnormalities in brain structure and biochemistry associated with mdx mice measured by in vivo MRI and high resolution localized (1)H MRS.

Authors:  Su Xu; Da Shi; Stephen J P Pratt; Wenjun Zhu; Andrew Marshall; Richard M Lovering
Journal:  Neuromuscul Disord       Date:  2015-07-10       Impact factor: 4.296

10.  An integrated strategy to study muscle development and myofilament structure in Caenorhabditis elegans.

Authors:  Barbara Meissner; Adam Warner; Kim Wong; Nicholas Dube; Adam Lorch; Sheldon J McKay; Jaswinder Khattra; Teresa Rogalski; Aruna Somasiri; Iasha Chaudhry; Rebecca M Fox; David M Miller; David L Baillie; Robert A Holt; Steven J M Jones; Marco A Marra; Donald G Moerman
Journal:  PLoS Genet       Date:  2009-06-26       Impact factor: 5.917

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.