|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
UDP N-acetylglucosamine2-epimerase/N-acetylmannosamine-kinase (GNE) gene mutations can cause mostly autosomal-recessive myopathy with juvenile-onset known as hereditary inclusion-body myopathy (HIBM).
|
30990900 |
2019 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
A homozygous missense mutation, c.1627G>A (p.V543M) in the GNE gene co-segregates with the myopathy present in this family.
|
30160005 |
2018 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.
|
28256728 |
2017 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
GNE has been associated with inclusion body myopathy and is expressed in many tissues.
|
29086072 |
2017 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
The effect of anisotropy at a fixed depth and preload were examined in the patients with GNE-related myopathy.
|
26035587 |
2015 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Activation of the Unfolded Protein Response in Sporadic Inclusion-Body Myositis but Not in Hereditary GNE Inclusion-Body Myopathy.
|
25978849 |
2015 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Molecular studies have revealed that some patients with myopathies with rimmed vacuoles have pathogenic mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) and Z-band alternatively spliced PDZ motif-containing protein (ZASP) genes.
|
23558691 |
2013 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Additional functions for GNE have been described recently, but the mechanism leading from GNE mutation to this myopathy is unclear.
|
22633753 |
2012 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Limb-girdle phenotype is frequent in patients with myopathy associated with GNE mutations.
|
22883483 |
2012 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
GNE myopathy (MIM 600737) is an autosomal recessive muscle disease caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene.
|
22231866 |
2012 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Hereditary inclusion body myopathy (HIBM) is an autosomal recessive adult-onset myopathy due to mutations in the GNE (UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase) gene.
|
21517694 |
2011 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Hereditary inclusion body myopathy (HIBM) is a genetic muscle disease due to mutations in the gene encoding the enzyme complex UDP-N-acetylglucosamine 2 epimerase-N-acetylmannosamine kinase (GNE), which catalyzes the rate-limiting step in sialic acid production.
|
19019317 |
2008 |
|
Myopathy
|
0.200 |
AlteredExpression
|
group |
LHGDN |
Distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion myopathy (h-IBM) is an early adult-onset distal myopathy caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene which encodes for a bifunctional enzyme involved in sialic acid biosynthesis.
|
17164266 |
2007 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
LHGDN |
Hereditary inclusion body myopathy with a novel mutation in the GNE gene associated with proximal leg weakness and necrotizing myopathy.
|
17718674 |
2007 |
|
Myopathy
|
0.200 |
AlteredExpression
|
group |
LHGDN |
GNE protein expression and subcellular distribution are unaltered in HIBM.
|
17698786 |
2007 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Hereditary inclusion body myopathy (HIBM) is a unique muscular disorder caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene.
|
17673919 |
2007 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion myopathy (h-IBM) is an early adult-onset distal myopathy caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene which encodes for a bifunctional enzyme involved in sialic acid biosynthesis.
|
17164266 |
2007 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
This abnormality represented the only pathologic feature differentiating HIBM due to GNE mutations from other myopathies with similar clinical and pathologic characteristics.
|
16534119 |
2006 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
LHGDN |
Mutations in GNE cause a rare inherited muscle disorder in humans called hereditary inclusion body myopathy (HIBM).
|
15748884 |
2005 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
This study brings to 17 the number of reported GNE mutations in quadriceps sparing myopathy, occurring either in the epimerase or the kinase domain of the enzyme.
|
12497639 |
2003 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
LHGDN |
GNE mutations are known to cause two other disorders: sialuria (OMIM #269921) and autosomal recessive inclusion body myopathy (IBM2, OMIM #600737).
|
11916006 |
2002 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
LHGDN |
Hence, autosomal dominant inclusion body myopathy (HIBM), Paget disease of bone (PDB), and frontotemporal dementia (FTD) localizes to a 1.08-6.46 cM critical interval on 9p13.3-12 in the region of autosomal recessive IBM2.
|
11749051 |
2001 |
|
Myopathy
|
0.200 |
CausalMutation
|
group |
CLINVAR |
|
|
|