Laing distal myopathy pathologically resembling inclusion body myositis
نویسندگان
چکیده
منابع مشابه
Laing distal myopathy pathologically resembling inclusion body myositis
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...
متن کاملFamilial myopathy with changes resembling inclusion body myositis and periventricular leucoencephalopathy. A new syndrome.
Five of 6 male siblings were affected by a progressive myopathy beginning in early childhood. Muscle biopsies in all patients showed the characteristic changes of inclusion body myositis. Computerized tomography and magnetic resonance imaging revealed a markedly abnormal appearance of cerebral white matter in the 4 affected patients tested, but clinical and other laboratory examinations failed ...
متن کاملInclusion body myositis: an underdiagnosed myopathy of older people.
Inclusion body myositis (IBM), a condition characterised by progressive muscle weakness and inclusion bodies visible on muscle biopsy, is the most common type of myopathy in patients over 50 years of age. However, it is not only under diagnosed but frequently misdiagnosed as polymyositis and hence wrongly treated with steroids. In the evaluation of progressive weakness in older Caucasian males,...
متن کاملInclusion-body myositis
Inclusion-body myositis is the most frequent and disabling myopathy seen in patients over 50 years of age. The distinct clinical features that lead to correct diagnosis and inclusion-body myositis mimics are highlighted. Inclusionbody myositis has a complex pathogenesis in which autoimmune and inflammatory features coexist with elements of degeneration and abundant accumulations of various stre...
متن کاملInclusion Body Myositis
Inclusion body myositis is an insidious, slowly progressive myopathy of middle-aged and older individuals. Because of these characteristics, diagnosis is often delayed. Affected muscle is marked by the presence of rimmed vacuoles, inclusions, and an inflammatory infiltrate largely made up of CD8 T lymphocytes and macrophages. The inclusions contain beta-amyloid and phosphorylated tau protein, a...
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ژورنال
عنوان ژورنال: Annals of Clinical and Translational Neurology
سال: 2014
ISSN: 2328-9503,2328-9503
DOI: 10.1002/acn3.140