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Limb-girdle muscular dystrophies

Guglieri, Michela ; Straub, Volker ; Bushby, Kate ; Lochmüller, Hanns DiMauro, S

Current opinion in neurology, 2008-10, Vol.21 (5), p.576-584 [Peer Reviewed Journal]

England

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  • Title:
    Limb-girdle muscular dystrophies
  • Author: Guglieri, Michela ; Straub, Volker ; Bushby, Kate ; Lochmüller, Hanns
  • DiMauro, S
  • Subjects: Diagnosis, Differential ; Humans ; Muscular Dystrophies, Limb-Girdle - classification ; Muscular Dystrophies, Limb-Girdle - diagnosis ; Muscular Dystrophies, Limb-Girdle - genetics ; Muscular Dystrophies, Limb-Girdle - therapy ; Prognosis
  • Is Part Of: Current opinion in neurology, 2008-10, Vol.21 (5), p.576-584
  • Notes: ObjectType-Article-2
    SourceType-Scholarly Journals-1
    ObjectType-Feature-1
    content type line 23
    ObjectType-Feature-3
    ObjectType-Review-1
  • Description: The aim of this review is to provide an up-to-date analysis of current knowledge about limb-girdle muscular dystrophies (LGMDs). Over the last few years, new and interesting studies have been published on LGMD. New LGMD genes have been discovered and the clinical and genetic heterogeneity in this group of muscular dystrophies has been further enlarged by the description of new forms of LGMD. Several studies have demonstrated involvement of genes causing posttranslational modifications of alpha-dystroglycan in the pathogenesis of autosomal recessive LGMD. This has highlighted an important overlap in pathogenesis between LGMD and congenital muscular dystrophies, prompting further research. Moreover, new pathogenic mechanisms and pathways are emerging for LGMD, in particular calpainopathies, dysferlinopathies and titinopathies. Such new findings may suggest novel therapeutic approaches and future clinical trials. The increased understanding of the genes and pathogenic mechanism of the LGMDs will improve diagnostic processes and prognostic accuracy, and promote therapeutic strategies. European and global LGMD patient registries will increase current knowledge on natural history and facilitate translational research.
  • Publisher: England
  • Language: English
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