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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




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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