Disease | gne myopathy |
Comorbidity | C0751336|distal myopathy |
Sentences | 26 |
PubMedID- 22540328 | Conclusions: aquaporin-4 might be crucial in determining the survival or degeneration of fast-twitch type 2 fibers in distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy. |
PubMedID- 23251671 | Rimmed vacuoles (rvs) can be seen in a certain range of muscle diseases including distal myopathy with rimmed vacuoles (dmrv) and sporadic inclusion body myositis (sibm), myofibrillar myopathies, and also lysosomal myopathies [1]–[3]. |
PubMedID- 22507750 | Background: glucosamine (udp-n-acetyl)-2-epimerase/n-acetylmannosamine kinase (gne) myopathy, also called distal myopathy with rimmed vacuoles (dmrv) or hereditary inclusion body myopathy (hibm), is a rare, progressive autosomal recessive disorder caused by mutations in the gne gene. |
PubMedID- 21179605 | A preclinical trial of sialic acid metabolites on distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy, a sugar-deficient myopathy: a review. |
PubMedID- 21082694 | Hereditary inclusion-body myopathy (hibm) or distal myopathy with rimmed vacuoles (dmrv) is an autosomal recessive disorder characterized by preferential involvement of distal muscles in the lower extremities, especially the anterior compartment of the legs, with relative preservation of the quadriceps.this is referred to as quadriceps-sparing myopathy. |
PubMedID- 24618559 | In distal myopathy with rimmed vacuoles (dmrv) jun has been shown to be increased in vacuolated fibres [21]. |
PubMedID- 21139844 | Recently, it has been clearly demonstrated that sialyllactose (neu5acα2-3(6)galβ1-4glc), neu5ac and n-acetylmannosamine could be candidates for prophylactic drugs to distal myopathy with rimmed vacuoles (dmrv)-hereditary inclusion body myopathy (hibm), which is a moderately progressive autosomal recessive myopathy [69]. |
PubMedID- 20383336 | Hereditary inclusion body myopathy (hibm, omim600737, inclusion body myopathy 2, distal myopathy with rimmed vacuoles) is a unique autosomal recessive muscle disorder, characterized by adult-onset of muscle weakness in upper and lower limbs. |
PubMedID- 22253810 | Mutations in the key enzyme of sialic acid biosynthesis, udp-n-acetylglucosamine 2-epimerase/n-acetyl-mannosamine kinase, result in distal myopathy with rimmed vacuoles (dmrv)/hereditary inclusion body myopathy (hibm) in humans. |
PubMedID- 25150707 | Methods: we, therefore, evaluated whether these mir-1, mir-133a, and mir-206 can be used as powerful biomarkers using the serum from muscular dystrophy patients including dmd, myotonic dystrophy 1 (dm1), limb-girdle muscular dystrophy (lgmd), facioscapulohumeral muscular dystrophy (fshd), becker muscular dystrophy (bmd), and distal myopathy with rimmed vacuoles (dmrv) by qualitative polymerase chain reaction (pcr) amplification assay. |
PubMedID- 24312256 | Rvs in all s-ibm (a–c) and distal myopathy with rvs (dmrv) (d) cases detected by anti- chmp2b antibody. |
PubMedID- 23287327 | distal myopathy with rimmed vacuoles (dmrv) is a major entity of distal myopathy. |
PubMedID- 22883483 | Its mutations are found in distal myopathy with rimmed vacuoles (dmrv) and hereditary inclusion body myopathy (hibm). |
PubMedID- 23196566 | [sialic acid supplementation therapy for distal myopathy with rimmed vacuoles (gne myopathy)]. |
PubMedID- 22825607 | Twenty eight cases (male : female = 14:14), biopsied at age ranging from 2-63 yr had age at onset ranging from 6 months to 14 yr. their clinical diagnoses were lgmd (n=18), congenital muscular dystrophy (cmd, n=2), distal myopathy with rimmed vacuoles (dmrv, n=3), dmd (n=1) and spinal muscular atrophy (sma, n=5). |
PubMedID- 20508342 | Background: 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. |
PubMedID- 22723986 | Currently, five different hibms have been reported: one for the autosomal recessive (ar) ibm, which is also known as hibm2 (mim #600737), distal myopathy with rimmed vacuoles (dmrv) or nonaka myopathy (mim #605820) [1], [2], and four for the autosomal dominant (ad) ibms. |
PubMedID- 22157763 | distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy (dmrv/hibm), characterized by progressive muscle atrophy, weakness, and degeneration, is due to mutations in gne, a gene encoding a bifunctional enzyme critical in sialic acid biosynthesis. |
PubMedID- 24707269 | distal myopathy with rimmed vacuoles (dmrv) is caused by mutations in the udp-n-acetylglucosamine 2-epimerase and n-acetylmannosamine kinase (gne) gene on chromosome 9 [1, 2]. |
PubMedID- 22196754 | Objectives: distal myopathy with rimmed vacuoles (dmrv) is a typical autosomal recessive hereditary inclusion body myopathy, characterized by slowly progressive distal muscle weakness with relative sparing of the quadriceps. |
PubMedID- 22718293 | Diffuse and increased cytoplasmic staining of o-glcnac was detected in (1) regenerating muscle fibers in muscular dystrophy, myositis, and rhabdomyolysis; (2) a proportion of atrophic fibers in myositis, such as those found in perifascicular regions in dermatomyositis; and (3) vacuolated fibers in sporadic inclusion body myositis (s-ibm) and distal myopathy with rimmed vacuoles (dmrv). |
PubMedID- 22855677 | distal myopathy with rimmed vacuoles (dmrv), also called hereditary inclusion body myopathy (hibm), is an juvenile-to-adult-onset autosomal-recessive disorder clinically characterized by preferential involvement of the lower leg muscles, especially the tibialis anterior muscle [1, 2]. |
PubMedID- 22402719 | distal myopathy with rimmed vacuoles (dmrv), also called hereditary inclusion body myopathy, is an autosomal recessive disease that typically affects tibialis anterior and hamstring muscles in young adults although other muscles are also involved in later stages. |
PubMedID- 21294420 | Suspected cases of mitochondrial neurogastrointestinal encephalopathy (mngie), myofibrillar myopathy (mfm) and distal myopathy with rimmed vacuoles (dmrv) were confirmed by molecular genetic studies examining thymidine phosphorylase, gne, zasp myotilin, desmin, abeta-crystalline and filamin c genes. |
PubMedID- 20548120 | [animal model of distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy and preclinical trial with sugar compounds]. |
PubMedID- 20120346 | One of the well known diseases in this group is distal myopathy with rimmed vacuoles (dmrv), also called hereditary inclusion body myopathy (hibm). |
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