In this detailed muscle biopsy study of a patient with molecularly confirmed diagnosis of limb-girdle muscular dystrophy 2I (LGMD2I) we show some new data, that is the presence of altered expression pattern of costamere components as integrin 7B and integrin 1D associated with vinculin costameric derangement and basal lamina ultrastructural abnormalities as detachments and discontinuities suggesting that different cellular compartments are involved in LGMD2I and the altered basement membrane-plasmalemma-cytoskeleton binding can underlie muscle degeneration.
- Fukutin-related protein gene
- integrin 7B
- itegrin 1D
- limb-girdle muscular dystrophy
- vinculin costameric derangement
ASJC Scopus subject areas
- Clinical Neurology