title: Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies.
abstract: OBJECTIVE
  Dystroglycanopathies are a common group of diseases characterized by a reduction in α-dystroglycan glycosylation. This review discusses the recent novel discovery of additional dystroglycanopathy variants and progress in dystroglycanopathy animal models.
  
  
  RESULTS
  Several novel glycosyltransferase genes have been found to be responsible for a dystroglycanopathy phenotype, and in addition recessive mutations in DAG1 have been identified for the first time in a primary dystroglycanopathy. Studies in dystroglycanopathy mouse models have clarified some aspects of the structural defects observed in the central nervous system and in the eye, whereas a study in zebrafish implicates unfolded protein response in the pathogenesis of two of the secondary dystroglycanopathies.
  
  
  CONCLUSIONS
  Improved understanding of the molecular bases of dystroglycanopathies will lead to more precise diagnosis and genetic counseling; therapeutic strategies are being developed and tested in the preclinical models and it is hoped that these observations will pave the way to therapeutic interventions in humans.
authors.affiliation: Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital, London, UK. f.muntoni@ich.ucl.ac.uk
authors.forename: Francesco
authors.initials: F
authors.lastname: Muntoni
authors.forename: Silvia
authors.initials: S
authors.lastname: Torelli
authors.forename: Dominic J
authors.initials: DJ
authors.lastname: Wells
authors.forename: Susan C
authors.initials: SC
authors.lastname: Brown
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D049030:Dystroglycans / Q000235:genetics / Q000378:metabolism*; D006031:Glycosylation; D006801:Humans; D051379:Mice; D009124:Muscle Proteins / Q000235:genetics / Q000378:metabolism; D009136:Muscular Dystrophies / Q000235:genetics / Q000378:metabolism* / Q000628:therapy; D058494:Walker-Warburg Syndrome / Q000235:genetics / Q000378:metabolism* / Q000628:therapy; D015027:Zebrafish
chemical_list: C483081:DAG1 protein, human; D009124:Muscle Proteins; D049030:Dystroglycans