Results 101 to 110 of about 1,189 (168)
Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy
Current Neurology and Neuroscience Reports, 2005 Distal myopathy with rimmed vacuoles (DMRV) and hereditary inclusion body myopathy (hIBM) share similar clinical features, including onset in young adulthood with preferential involvement of the anterior compartment of the lower legs and sparing of the quadriceps femoris muscles. The most significant muscle pathology is the presence of rimmed vacuoles,
Ikuya Nonaka, S. Noguchi, Ichizo Nishino
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Muscle fiber degradation in distal myopathy with rimmed vacuoles
Acta Neuropathologica, 1994 Late-onset distal myopathy showed numerous rimmed vacuoles with the same properties as autophagic vacuoles. Electron microscopy showed numerous degenerated mitochondria, glycogen, or cell membranes in rimmed vacuoles, but no evidence that these vacuoles engulfed and contained intact or partially disrupted myofibrils.
Toshihide Kumamoto +4 more
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Reducing bodies in distal myopathy with rimmed vacuole formation
Acta Neuropathologica, 1994 A 42-year-old woman with distal myopathy with rimmed vacuoles had intracytoplasmic inclusion bodies similar to those described in reducing body myopathy. Since these inclusions were found in fibers with high acid phosphatase activity and occasional rimmed vacuoles, their formation appeared to correlate with active myofibrillar degeneration, but their ...
Beatriz Hitomi Kiyomoto +4 more
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Distal myopathy with rimmed vacuoles and inflammation: A genetically proven case
Neurology India, 2012 Distal myopathy with rimmed vacuoles (DMRV) is a major entity of distal myopathy. It is an autosomal recessive disorder and is due to mutations in the GNE gene that regulates the synthesis of sialic acid. Although reported predominantly from Japan, cases have been reported from other parts of the world.
MeenaA Kannan +5 more
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Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy
Neurology, 2002 Distal myopathy with rimmed vacuoles (DMRV) is an autosomal-recessive disorder with preferential involvement of the tibialis anterior muscle that starts in young adulthood and spares quadriceps muscles. The disease locus has been mapped to chromosome 9p1-q1, the same region as the hereditary inclusion body myopathy (HIBM) locus.
Ichizo Nishino +16 more
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Recent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: treatment perspectives
Current Opinion in Neurology, 2008 Distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy is an adult-onset autosomal recessive, slowly progressive and debilitating myopathy due to mutations in the gene that regulates the synthesis of sialic acid. This review aims to update our knowledge of this myopathy and to review studies about pathomechanism and therapeutic ...
May Christine V. Malicdan +2 more
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Immunohistochemical study of clathrin in distal myopathy with rimmed vacuoles
Acta Neuropathologica, 1998 Clathrin-coated vesicles are involved in three receptor-mediated intracellular transport pathways: export from the Golgi apparatus, transfer of lysosomal enzymes from the Golgi apparatus to lysosomes, and endocytosis at the plasma membrane. Seeking evidence of transport abnormalities in distal myopathy with rimmed vacuoles (DMRV), we performed ...
T Kumamoto +4 more
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Distal myopathy with rimmed vacuoles: Report on clinical characteristics in 23 cases
Neurology India, 2010 Distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessive (AR) myopathy characterized clinically by the preferential involvement of the tibialis anterior and has been reported predominantly in the Japanese population.A case series of DMRV patients seen over a period of 3 years at a tertiary national referral center for neurological ...
Atchayaram Nalini +2 more
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