نتایج جستجو برای: merosin
تعداد نتایج: 173 فیلتر نتایج به سال:
Muscular dystrophies result from a defect in the linkage between the muscle fiber cytoskeleton and the basement membrane (BM). Congenital muscular dystrophy type MDC1A is caused by mutations in laminin α2 that either reduce its expression or impair its ability to polymerize within the muscle fiber BM. Defects in this BM lead to muscle fiber damage from the force of contraction. In this issue of...
1 From the Clinics Hospital of the University of São Paulo, Brazil. Received December 10, 2003; revision requested February 19, 2004; revision received May 22; accepted June 28. From the 2002 RSNA Scientific Assembly. M.C.G.O., M.O.R.C., and M.T.C.L. supported by FAPESP (Fundação de Amparo à Pesquisa do Estado de São Paulo). Address correspondence to C.C.L., Rua Mário Amaral, 81 apto 121M, São ...
Deficiency of merosin in dystrophic dy mice and genetic linkage of laminin M chain gene to dy locus.
The dy/dy mouse is an animal model for human merosin-negative congenital muscular dystrophy (CMD), which has been reported to have reduced or no expression of the basement membrane protein laminin alpha2. We here investigate various myogenic and nonmyogenic tissues of mature dy/dy and control 129ReJ mice histologically and for laminin alpha2 expression. In addition, expression patterns of lamin...
We investigated two children who presented with delayed motor milestones. The first was a girl who was referred at 20 months because of developmental delay. She walked at 28 months and currently, aged 5 years, is independently mobile but has difficulty rising from the floor or going upstairs. The second was also a girl who presented at 6 weeks of age with hypotonia. Her motor milestones were de...
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