Clinical and pathological analysis of seven patients with limb-girdle muscular dystrophy 2B

Abstract

Objective To analyze the clinical and pathological features of limb-girdle muscular dystrophy2B(LGMD2B).Methods The clinical and pathological features of 7 patients with LGMD2B were analyzed retrospectively.Results Seven patients had a slow onset,and progressive proximal muscle weakness,muscle atrophy,progressive,and incresed serum creatine phosphokinase; muscle biopsy showed different degree of muscle fiber degeneration,necrosis; stromal and inflammatory cell infiltration in muscle fiber; monoclonal antibody immunohistoehemical staining:showed expression of Dysferlin protein was not found in muscle cell membrane,Dystrophin,Sarcoglycans protein expression was normal.Monoclonal antibody immunohistochemical staining the proteins were expressed in normal cell membrane.Conclusions LGMD2B is a slow onset,progressive proximal muscle weakness,muscle atrophy.Histochemical staining on the basis of further immunohistochemical staining,to detect the membrane protein and Dysferlin protein expression,that is a necessary means to diagnose LGMD2B and inflammatory myopathies. Key words: Muscular dystrophies,limb-girdle; Pathology