نتایج جستجو برای: merosin
تعداد نتایج: 173 فیلتر نتایج به سال:
Adhalin and alpha-dystroglycan are two components of a complex of proteins that, in conjunction with dystrophin, provide a link between the subsarcolemmal cytoskeleton and the basal lamina of the extracellular matrix of skeletal muscle. In the absence of dystrophin, in Duchenne muscular dystrophy (DMD) and the mdx mouse, levels of adhalin, alpha-dystroglycan and other components of the complex,...
OBJECTIVE Muscle biopsy is a very important diagnostic test in the investigation of a child with suspected neuromuscular disorder. The goal of this study was to review and evaluate pediatric muscle biopsies during a 2-year period with focus on histopathology diagnosis and correlations with other paraclinic studies. MATERIALS & METHODS We investigated 100 muscle biopsies belonging to patients ...
Comment: This patient had been treated at one point in her course with intravenous immunoglobulin (IVIG), with no effect. Immunocytochemical studies for sarcoglycans, dystrophin, and merosin were all normal. However, there was complete absence of dysferlin, which is also expressed in the sarcolemma at a point different from dystrophin. It was noted that there can be secondary loss of dysferlin ...
PURPOSE Congenital muscular dystrophy (CMD) is a heterogeneous disease entity. The detailed clinical manifestation and causative gene for each subgroup of CMD are quite variable. This study aims to analyze the phenotypes and genotypes of Taiwanese patients with CMD as the epidemiology of CMD varies among populations and has been scantly described in Asia. METHODS A total of 48 patients suspec...
Congenital myopathies and congenital myopathic dystrophies are distinct groups of inherited diseases of muscle, genetically heterogeneous, that manifest in early life or infancy. Congenital myopathic dystrophy is characterized by a dystrophic pattern, whereas no necrotic or degenerative changes are present in congenital myopathies. Much progress has been made in recent years in clarifying the c...
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