title: Cytoskeletal and extracellular matrix alterations in limb girdle muscular dystrophy 2I muscle fibers.
abstract: 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 α7B and integrin β1D 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.
authors.affiliation: Department of Rizzoli-Sicily, Physical Medicine and Rehabilitation, Rizzoli Orthopedic Institute, Bagheria, Italy.
authors.forename: Patrizia
authors.initials: P
authors.lastname: Sabatelli
authors.forename: Camilla
authors.initials: C
authors.lastname: Pellegrini
authors.forename: Cesare
authors.initials: C
authors.lastname: Faldini
authors.forename: Luciano
authors.initials: L
authors.lastname: Merlini
mesh_terms: D000328:Adult; D003599:Cytoskeleton / Q000378:metabolism* / Q000473:pathology; D049030:Dystroglycans / Q000378:metabolism; D005109:Extracellular Matrix / Q000378:metabolism* / Q000473:pathology; D006801:Humans; D016023:Integrins / Q000378:metabolism; D007797:Laminin / Q000378:metabolism; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology*; D049288:Muscular Dystrophies, Limb-Girdle / Q000473:pathology*; D016596:Vinculin / Q000378:metabolism
chemical_list: D016023:Integrins; D007797:Laminin; C102645:laminin alpha 2; D016596:Vinculin; D049030:Dystroglycans