نتایج جستجو برای: sarcoglycanopathy
تعداد نتایج: 33 فیلتر نتایج به سال:
γ-Sarcoglycanopathy or limb girdle muscular dystrophy type 2C is an untreatable disease caused by autosomal recessively inherited mutations of the γ-sarcoglycan gene. Nine non-ambulatory patients (two males, seven females, mean age 27 years; range 16-38 years) with del525T homozygous mutation of the γ-sarcoglycan gene and no γ-sarcoglycan immunostaining on muscle biopsy were divided into three ...
limb girdle muscular dystrophies (lgmds) are group of neuromuscular disorders which are characterized by progressive muscle weakness and they mostly affect the pelvic and shoulder girdle muscles. this disease can be inherited as autosomal dominant (lgmd1) and autosomal recessive (lgmd2). so far seven autosomal dominant and 20 autosomal recessive forms of this disease have been recognized reflec...
muscle biopsy interpretation has been revolutionized by ihc. immunohistochemistry now has an essential role in the evaluation of the muscle biopsies and in examining proteins localizations. advances in the characterization of sarcolemmal proteins and recognition that defects in the genes encoding such proteins may lie at the heart of the multiple differing forms of muscular dystrophy have been ...
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