title: Limb-girdle muscular dystrophy-associated protein diseases.
abstract: The limb-girdle muscular dystrophies are a genetically and clinically heterogeneous group of diseases. Most of these proteinopathies show wide inter- and intrafamilial phenotypic heterogeneity, so that limb-girdle involvement may be often considered as one of the possible clinical expressions of a determined protein defect.
  
  
  RESULTS
  This review reports an updated and comprehensive classification of these proteinopathies according to protein defect and transmission modality and focuses on the main associated clinical pictures.
  
  
  CONCLUSIONS
  An accurate diagnosis is often difficult because of the clinical and genetic variability characterizing this group of muscle diseases. Appropriate diagnostic approaches are essential to achieve the correct diagnosis.
authors.affiliation: Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital Spedali Civili, Brescia, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Broglio
authors.forename: Marta
authors.initials: M
authors.lastname: Tentorio
authors.forename: Maria Sofia
authors.initials: MS
authors.lastname: Cotelli
authors.forename: Michelangelo
authors.initials: M
authors.lastname: Mancuso
authors.forename: Valentina
authors.initials: V
authors.lastname: Vielmi
authors.forename: Valeria
authors.initials: V
authors.lastname: Gregorelli
authors.forename: Alessandro
authors.initials: A
authors.lastname: Padovani
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Filosto
mesh_terms: D064211:Connectin; D003598:Cytoskeletal Proteins / Q000235:genetics; D006801:Humans; D008840:Microfilament Proteins; D008967:Molecular Biology; D009124:Muscle Proteins / Q000235:genetics* / Q000378:metabolism*; D049288:Muscular Dystrophies, Limb-Girdle / Q000145:classification / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D009154:Mutation; D010641:Phenotype
chemical_list: D064211:Connectin; D003598:Cytoskeletal Proteins; C577290:MYOT protein, human; D008840:Microfilament Proteins; D009124:Muscle Proteins