title: Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches.
abstract: OBJECTIVE
  This review is an up-to-date analysis of the genetic diagnosis and therapeutic strategies for limb girdle muscular dystrophies (LGMDs).
  
  
  RESULTS
  LGMDs are an example of both clinical and genetic heterogeneity. Clinically, by the description of non-LGMD phenotypes associated with LGMD genes and of LGMD phenotypes associated with originally non-LGMD disease genes; and genetically, by the description of new LGMD genes that further increase the diagnostic complexity. Moreover, new powerful approaches for DNA analysis, such as exome sequencing, promise to revolutionize the field of heterogeneous genetic diseases, also providing information about the true penetrance of LGMD mutations. The recent inputs on novel pathogenic mechanisms and pathways in LGMD will suggest novel therapeutic approaches and future clinical trials. In addition, therapeutic approaches of gene and cell delivery into animal models show promising results that will be translated into clinical trials.
  
  
  CONCLUSIONS
  The genetic diagnosis of LGMD from the present home-made algorithms will move toward high-throughput diagnostic strategies based on next-generation sequencing (NGS) technologies. As therapy, new powerful drug approaches based on recent pathogenetic findings will be pushed to clinical trials. In addition, novel more efficient and safer viral vectors for gene delivery will be proposed.
authors.affiliation: Dipartimento di Patologia Generale and CIRM, Seconda Università degli Studi di Napoli, Napoli, Italy. vincenzo.nigro@unina2.it
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Nigro
authors.forename: Stefania
authors.initials: S
authors.lastname: Aurino
authors.forename: Giulio
authors.initials: G
authors.lastname: Piluso
mesh_terms: D000818:Animals; D001706:Biopsy; D004195:Disease Models, Animal; D006801:Humans; D009124:Muscle Proteins / Q000235:genetics; D018482:Muscle, Skeletal / Q000473:pathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000145:classification* / Q000235:genetics / Q000473:pathology / Q000628:therapy
chemical_list: D009124:Muscle Proteins