Regressive Vacuolar Myopathy in Steatorrhea
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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Case report. A 57-year-old woman, born to parents of Gujarati Indian descent (figure, A), presented at age 19 with pain and stiffness in her calves and a tendency to trip. In her 20s, a formal neurologic examination demonstrated predominantly distal lower limb weakness and normal upper limb muscle strength. Motor and sensory nerve conduction studies were normal with the exception that no motor ...
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Autophagy is dysfunctional in many degenerative diseases including myopathies. Mutations in valosin-containing protein (VCP) cause inclusion body myopathy (IBM) associated with Paget's disease of the bone, fronto-temporal dementia and amyotrophic lateral sclerosis (IBMPFD/ALS). VCP is necessary for protein degradation via the proteasome and lysosome. IBMPFD/ALS mutations in VCP disrupt autophag...
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The complex of Vacuolar Protein Sorting 34 and 15 (Vps34 and Vps15) has Class III phosphatidylinositol 3-kinase activity and putative roles in nutrient sensing, mammalian Target Of Rapamycin (mTOR) activation by amino acids, cell growth, vesicular trafficking and autophagy. Contrary to expectations, here we show that Vps15-deficient mouse tissues are competent for LC3-positive autophagosome for...
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ژورنال
عنوان ژورنال: Archives of Neurology
سال: 1971
ISSN: 0003-9942
DOI: 10.1001/archneur.1971.00480330045004