نتایج جستجو برای: sarcoglycanopathy
تعداد نتایج: 33 فیلتر نتایج به سال:
Gamma-sarcoglycanopathy (LGMD 2C) with Del 525T mutation: Report of the first familial case in Niger
BACKGROUND Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of disorders characterized by limb girdle weakness. There are no clear clinical features that distinguish various types of LGMD. MATERIALS AND METHODS We studied 26 patients with chronic progressive weakness in limb girdle distribution without early facial involvement with muscle biopsies suggestive of dystrophy/myopath...
Persistent creatine kinase (CK) elevation can occur due to various conditions. Identifying the causes of hyperCKemia is crucial for enabling appropriate follow-up and care. Girls with elevated CK levels may be carriers Duchenne/Becker muscular dystrophy (DMD/BMD), making diagnosis more difficult than that in boys. This study aimed elucidate underlying high girls. Fourteen girls (seven symptomat...
Sarcoglycanopathies are a group of autosomal recessive muscle-wasting disorders caused by genetic defects in one of four cell membrane glycoproteins, alpha-, beta-, gamma- or delta-sarcoglycan. These four sarcoglycans form a subcomplex that is closely linked to the major dystrophin-associated protein complex, which is essential for membrane integrity during muscle contraction and provides a sca...
Background: Limb girdle muscular dystrophy (LGMD) is a phenotypic expression of a heterogeneous group of diseases and sarcoglycanopathy is one of the causes of LGMD. There is only one study on sarcoglycanopathies in the Indian literature. No data is available from northern India. Materials and Methods: All cases of muscular dystrophies, which were diagnosed in our laboratory in the last six yea...
The sarcoglycan complex in striated muscle is a heterotetrameric unit integrally associated with sarcospan in the dystrophin-glycoprotein complex. The sarcoglycans, alpha, beta, gamma, and delta, are mutually dependent with regard to their localization at the sarcolemma, and mutations in any of the sarcoglycan genes lead to limb-girdle muscular dystrophies type 2C-2F. In smooth muscle beta- and...
Sarcoglycanopathies are a genetically heterogeneous group of autosomal recessive muscular dystrophies in which the primary defect may reside in any of the genes coding for the different partners of the sarcolemmal sarcoglycan (SG) complex: the alpha-SG (LGMD2D at 17q21.2), the beta-SG (LGMD2E at 4q12), the gamma-SG (LGMD2C at 13q12), and the delta-SG (LGMD2F at 5q33). We report a series of 20 n...
Many membrane and secretory proteins that fail to pass quality control in the endoplasmic reticulum (ER) are dislocated into the cytosol and degraded by the proteasome. In applying rigid rules, however, quality control sometimes discharges proteins that, even though defective, retain their function. The unnecessary removal of such proteins represents the pathogenetic hallmark of diverse genetic...
OBJECTIVE In this study, it was aimed to describe the clinical, histopathological and genetic features of 20 patients with gamma sarcoglycanopathy confirmed by muscle biopsies and genetic analysis. MATERIAL AND METHOD We retrospectively reviewed 20 patients from whom muscle biopsy specimens were obtained between 2007 and 2012. All patients were clinically diagnosed as muscular dystrophy and b...
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