Limb-girdle muscular dystrophy-associated protein diseases

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.

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.

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.