New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy
نویسندگان
چکیده
منابع مشابه
Phenotypic variability in a Chinese family with rimmed vacuolar distal myopathy.
BACKGROUND UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene mutations have been found in patients with distal myopathy with rimmed vacuoles (DMRV). It is not clear how the same GNE gene mutations can result in different phenotypes in the same family with DMRV. METHODS The clinical, neurophysiological, histopathological, and genetic characteristics of two patients with...
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BACKGROUND The autophagic vacuolar myopathies (AVM) are a group of inherited myopathies defined by the presence of autophagic vacuoles in pathological muscle specimens. AVM can be categorized into three groups: acid maltase deficiency, myopathies characterized by autophagic vacuoles with unique sarcolemmal features, and rimmed vacuolar myopathies (RVM). While the pathogeneses of these condition...
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In a previous report we suggested that muscle fibers in distal myopathy with rimmed vacuoles (DMRV) were degraded by both lysosomal proteolysis (cathepsins) and Ca2+-dependent, nonlysosomal proteolysis (calpain). Given recent evidence of abnormal ubiquitin accumulation in rimmed vacuoles, we examined the role of the ATP-ubiquitin-dependent proteolytic pathway (proteasomes) in myofiber degradati...
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ژورنال
عنوان ژورنال: Neurology Genetics
سال: 2019
ISSN: 2376-7839
DOI: 10.1212/nxg.0000000000000349