نتایج جستجو برای: merosin
تعداد نتایج: 173 فیلتر نتایج به سال:
Saturday, May 16, 1998, was a landmark day in pediatric neuroradiology. The First International Pediatric Neuroradiology Symposium was held in Philadelphia in conjunction with the Symposium Neuroradiologicum XVI and the 36th annual meeting of the American Society of Neuroradiology. Organized by Jim Barkovich, a fascinating day unfolded for those interested in the imaging of the developing brain...
Two siblings with a congenital muscular dystrophy and severe mental retardation which was not due to dystrophin, merosin, or adhalin deficiency are described. These cases overlap with congenital muscular dystrophy of the Fukuyama-type but are less severe. Atypical features include limited facial involvement, retained ambulation, and severe retrocollis.
The congenital muscular dystrophies (CMD) are clinically and genetically heterogeneous. The merosin (laminin alpha2 chain) deficient form (MDC1A), is characterized clinically by neonatal hypotonia, delayed motor milestones and associated contractures. It is caused by deficiency in the basal lamina of muscle fibers of the alpha2 chain of laminins 2 and 4 (LAMA2 gene at 6q22-23). Laminin alpha2 c...
The in vitro synthesis and deposition of laminin family glycoproteins were studied using primary porcine thyroid cells cultured as monolayers or in follicles. The latter organization mimics the in vivo state of these polarized epithelial cells. In both cell systems a trimeric molecule was immunoprecipitated by using polyclonal antibodies against EHS-laminin. When the cells were fully polarized ...
how to cite this article: nilipor y, shariatmadari f, abdollah gorji f, rouzrokh m, ghofrani m, karimzadeh p, taghdiri mm, delavarkasmaei h, ahmadabadi f, bakhshandeh bali mk, nemati h, saket s, jafari n, yaghini o, tonekaboni sh. evaluation of one hundred pediatric muscle biopsies during a 2-year period in mofid children and toos hospitals. iran j child neurol. 2013 spring;7(2):17-21. obje...
congenital muscular dystrophy (cmd) is an umbrella term collecting a heterogeneous groups of genetic disorders , mostly with autosomal recessive mode of inheritance , and are characterized by muscle weakness since birth or in early infancy , with a dystrophic pattern on muscle biopsy . these children are usually hypotonic and may have joint contractures . the serum creatine kinase level can be...
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