TITLE

Limb girdle muscular dystrophies: The clinicopathological viewpoint

AUTHOR(S)
Urtizberea, J. Andoni; Leturcq, France
PUB. DATE
December 2007
SOURCE
Annals of Indian Academy of Neurology;Dec2007, Vol. 10 Issue 4, p214
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
Limb girdle muscular dystrophies (LGMD) are characterized by involvement of the pelvic and shoulder girdles, classically with an onset in the second or third decade and a slow progression as opposed to Duchenne muscular dystrophy. In fact, there are many clinical variants that are related to this broad definition. For the past 13 years and since the discovery of calpain-3 as the underlying defect in LGMD 2A in 1995, a number of different genes have been found to cause LGMD; some of whose encoding proteins are located either in the sarcolemma, nucleus, cytosol or in the extra-cellular matrix. Very little is known regarding a possible common pathogenesis between all these entities. The current nomenclature of LGMDs, although a bit confusing, is still necessary to continue the establishment of homogeneous cohorts of patients and to look for unknown genes. The diagnosis of LGMD is nowadays based on a complementary clinical, immunocytochemical and genetic approach that is best achieved in specialized myology centers. In this context, India can make a significant contribution to improve the routine diagnosis in LGMD patients and to find new LGMD genes in genetic isolates. Therapeutic prospects in LGMD, although quite exciting, remain at a preliminary stage, especially those with gene-therapy orientation.
ACCESSION #
28720103

 

Related Articles

  • Screening of dystrophin gene deletions in Egyptian patients with DMD/BMD muscular dystrophies. Effat, Laila K.; El-Harouni, Ashraf A.; Amr, Khalda S.; El-Minisi, Tarik I.; Abdel Meguid, Nagwa; El-Awady, Mostafa // Disease Markers;2000, Vol. 16 Issue 3/4, p125 

    Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are allelic disorders caused by mutations within the dystrophin gene. Our study has identified 100 Egyptian families collected from the Human Genetics Clinic, National Research Center, Cairo. All cases were subjected to...

  • Linking cytoarchitecture to metabolism: sarcolemma-associated plectin affects glucose uptake by destabilizing microtubule networks in mdx myofibers. Raith, Marianne; Valencia, Rocio G.; Fischer, Irmgard; Orthofer, Michael; Penninger, Josef M.; Spuler, Simone; Rezniczek, Günther A.; Wiche, Gerhard // Skeletal Muscle;2013, Vol. 3 Issue 1, p1 

    Background: Duchenne muscular dystrophy (DMD) is one of the most frequent forms of muscular disorders. It is caused by the absence of dystrophin, a core component of the sarcolemma-associated junctional complex that links the cytoskeleton to the extracellular matrix. We showed previously that...

  • Targeted expression of insulin-like growth factor-i reduces early myofiber necrosis in dystrophic mdx mice. Shavlakadze, Thea; White, Jason; Hoh, Joseph F.Y.; Rosenthal, Nadia; Grounds, Miranda D. // Molecular Therapy;Nov2004, Vol. 10 Issue 5, p829 

    Necrosis of dystrophic myofibers in Duchenne muscular dystrophy and mdx mice results from defects in the subsarcolemmal protein dystrophin that cause membrane fragility and tears in the sarcolemma, and these lead to the destruction of the myofibers. The present study specifically tests whether...

  • Gene Therapy for Muscular Dystrophies: Current Status and Future Prospects. Takeda, S.; Miyagoe-Suzuki, Y. // BioDrugs;2001, Vol. 15 Issue 10, p635 

    Since the identification in 1987 of the gene for Duchenne muscular dystrophy (DMD), research on the molecular pathogenesis of muscular dystrophy has progressed extensively. In particular, discovery of the DMD gene product, dystrophin, led to the identification of dystrophin-associated proteins...

  • GENE REPAIR.  // Science Teacher;Sep2000, Vol. 67 Issue 6, p17 

    Reports on the findings of a study on the use of gene therapy to treat Duchenne muscular dystrophy. Difficulty of developing gene therapy for the condition; Causes of the disease.

  • Recent advances in Duchenne muscular dystrophy. Perkins, Kelly J.; Davies, Kay E. // Degenerative Neurological & Neuromuscular Disease;2012 Part 2, Vol. 2, p141 

    Duchenne muscular dystrophy (DMD), an allelic X-linked progressive muscle-wasting disease, is one of the most common single-gene disorders in the developed world. Despite knowledge of the underlying genetic causation and resultant pathophysiology from lack of dystrophin protein at the muscle...

  • AAV-mediated Overexpression of Human α7 Integrin Leads to Histological and Functional Improvement in Dystrophic Mice. Heller, Kristin N; Montgomery, Chrystal L; Janssen, Paul ML; Clark, K Reed; Mendell, Jerry R; Rodino-Klapac, Louise R // Molecular Therapy;Mar2013, Vol. 21 Issue 3, p520 

    Duchenne muscular dystrophy (DMD) is a severe muscle disease caused by mutations in the DMD gene, with loss of its gene product, dystrophin. Dystrophin helps link integral membrane proteins to the actin cytoskeleton and stabilizes the sarcolemma during muscle activity. We investigated an...

  • AAV vector-mediated microdystrophin expression in a relatively small percentage of mdx myofibers improved the mdx phenotype. Yoshimura, Madoka; Sakamoto, Miki; Ikemoto, Madoka; Mochizuki, Yasushi; Yuasa, Katsutoshi; Miyagoe-Suzuki, Yuko; Takeda, Shin'ichi // Molecular Therapy;Nov2004, Vol. 10 Issue 5, p821 

    Duchenne muscular dystrophy (DMD) is a lethal disorder of skeletal muscle caused by mutations in the dystrophin gene. Adeno-associated virus (AAV) vector-mediated gene therapy is a promising approach to the disease. Although a rod-truncated microdystrophin gene has been proven to ameliorate...

  • In vivo correction of muscular dystrophy. Jamison, Judy // Nature Biotechnology;Jun2000, Vol. 18 Issue 6, p586 

    Discusses that gene therapy for Duchenne muscular dystrophy (DMD) has failed to produce long-term stable expression of the dystrophin gene product. Reasons for the failure of gene therapy for DMD; Use of chimeric oligonucleotides to repair sickle cell mutations.

Share

Read the Article

Courtesy of VIRGINIA BEACH PUBLIC LIBRARY AND SYSTEM

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics