نتایج جستجو برای: rimmed steel
تعداد نتایج: 81648 فیلتر نتایج به سال:
Inclusion body myositis is a rare myopathy that clinically resembles a chronic polymyositis and histopathologically is characterized by the presence of rimmed vacuoles containing ultrastructural cytoplasmic degradation products with filamentous intranuclear and cytoplasmic inclusions. Since clinical features are not uniform, histopathologic and ultrastructural studies are necessary to confirm t...
Mutations in MYH7 cause autosomal dominant Laing distal myopathy. We present a family with a previously reported deletion (c.5186_5188delAGA, p.K1729del). Muscle pathology in one family member was characterized by an inflammatory myopathy with rimmed vacuoles, increased MHC Class I expression, and perivascular and endomysial muscle inflammation comprising CD3(+), CD4(+), CD8(+), and CD68(+) inf...
An 85 year old woman presented with a one month history of change in her bowel habits in the form of alternating diarrhoea and constipation. She also noted some rectal bleeding. Flexible sigmoidoscopy revealed a 1.5 cm polyp 30 cm from the anus. The polyp was removed during the sigmoidoscopy by electrocautery and sent for histological examination. The polyp was a tubular adenoma with mild dyspl...
We report novel compound heterozygous mutations of the UDP-N-acetylglucosamine-2-epimerase and N-acetylmannosamine kinase (GNE) gene, c.302G>A (p.R101H) and c.617-4A>G, in a Japanese family with distal myopathy with rimmed vacuoles (DMRV) presenting with slow progression. The three patients could stand and walk even 36, 34, and 39 years after onset, respectively, although affected individuals b...
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