نتایج جستجو برای: myofibrillar myopathy
تعداد نتایج: 14255 فیلتر نتایج به سال:
The term myofibrillar myopathies (MFM) refers to uncommon neuromuscular disorders that pathologically are characterized by myofibrillar degeneration and ectopic expression of several proteins. MFM are partly caused by mutations in genes that encode mainly Z-disk-related proteins (desmin, alphaB-crystallin, myotilin, ZASP, filamin C and BAG3). We reviewed clinical, light and electron microscopy,...
5th Aim Congress ITALIAN ASSOCIATION FOR MYOLOGY Jolly Hotel delle Terme – Ischia, Naples, Italy, June 16-18, 2005 Foreward I am delighted to be asked to write a foreward to the 5 Meeting of Italian Society of Myology, since this is a remarkably comprehensive meeting and contributes significantly to our store of knowledge in Myology with several oral communications, posters and case presentatio...
Critical illness myopathy (CIM) is a debilitating common consequence of modern intensive care, characterized by severe muscle wasting, weakness and a decreased myosin/actin (M/A) ratio. Limb/trunk muscles are primarily affected by this myopathy while cranial nerve innervated muscles are spared or less affected, but the mechanisms underlying these muscle-specific differences remain unknown. In t...
Mitochondrial myopathy, lactic acidosis, and siderobastic anemia (MLA SA) syndrome is one of the newly reported mitochondrial diseases, seven cases of which have been reported. We report a child with inflammatory myopathy, sideroblastic anemia and lactic acidosis .The patient is a 8.5 year old boy with normal cognitive function suffering from chronic progressive weakness in lower extremities, ...
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