Limb-girdle muscular dystrophy-associated protein diseases

Neurologist. 2010 Nov;16(6):340-52. doi: 10.1097/NRL.0b013e3181d35b39.


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.

Review summary: 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.

Publication types

  • Review

MeSH terms

  • Connectin
  • Cytoskeletal Proteins / genetics
  • Humans
  • Microfilament Proteins
  • Molecular Biology
  • Muscle Proteins / genetics*
  • Muscle Proteins / metabolism*
  • Muscular Dystrophies, Limb-Girdle / classification
  • Muscular Dystrophies, Limb-Girdle / genetics
  • Muscular Dystrophies, Limb-Girdle / pathology
  • Muscular Dystrophies, Limb-Girdle / physiopathology*
  • Mutation
  • Phenotype


  • Connectin
  • Cytoskeletal Proteins
  • MYOT protein, human
  • Microfilament Proteins
  • Muscle Proteins