Two cases of Becker's muscular Dystrophy
Journal: University Journal of Medicine and Medical Specialities (Vol.3, No. 2)Publication Date: 2017-02-24
Authors : GANESAN KANAGASABAPATHI;
Page : 191-195
Keywords : Becker's muscular Dystrophy; Dystrophin; Duchenne's muscular dystrophy;
Abstract
Becker's muscular Dystrophy is an Xlinked recessive disorder results from allelic defects of the gene that encodes dystrophin, a 427-kDa protein localized to the inner surface of the sarcolemma of the muscle fibre. It is less frequent than Duchennes and women may be affected due to mosaicism. We present two cases of Beckers muscular dystrophy in a brother and sister. They presented with weakness of proximal muscles of both upper and lower limbs. The CPK levels were markedly elevated. The EMG showed mixed myopathic pattern in proximal muscles of lower limbs and the Nerve conduction studies were normal.Mucsle biopsy confirmed the diagnosis by focal atrophy and replacement by fatty and fibrous tissue.
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Last modified: 2017-02-28 20:01:27