|
rs137853305
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Hence, we recorded and analyzed the X-ray diffraction patterns of human membrane-permeabilized muscle cells expressing a particular beta-tropomyosin mutation (R133W) associated with a loss in cell force production, in vivo muscle weakness, and distal arthrogryposis.
|
20457903 |
2010 |
|
rs137853305
|
|
|
0.030 |
GeneticVariation |
BEFREE |
It is suggested that the R133W beta-Tm mutation induces alteration in myosin-actin kinetics causing a reduced number of myosin molecules in the strong actin-binding state, resulting in overall muscle weakness in the absence of muscle wasting.
|
17430991 |
2007 |
|
rs137853305
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We describe two patients, a woman and her daughter, with muscle weakness and distal arthrogryposis (DA) type 2B, caused by a heterozygous missense mutation, R133W, in TPM2, the gene encoding beta-TM.
|
17339586 |
2007 |
|
rs387906789
|
|
|
0.020 |
GeneticVariation |
BEFREE |
FTD was diagnosed in two individuals and suspected in the third one who also displayed muscle weakness.A VCP R159C mutation was found.
|
22900631 |
2013 |
|
rs387906789
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We report a novel heterozygous VCP gene mutation (R159C) in a 69-year-old Italian patient presenting with slowly progressive muscle weakness of the distal upper and proximal lower limbs since the age of 50 years, 18 years later FTD supervened.
|
17889967 |
2009 |
|
rs80356624
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Four of the five patients with mutations had neurological features: the patient with the C166F mutation had marked developmental delay, severe generalised epilepsy, hypotonia and muscle weakness; mild developmental delay was present in the patient with the V59M mutation; one patient with the R201H mutation had acute and chronic neurological consequences of cerebral oedema and another had diabetic neuropathy from chronic hyperglycaemia.
|
16670688 |
2006 |
|
rs80356624
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Recent studies have shown that heterozygous mutations in KCNJ11, which encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium (K(ATP)) channel, cause permanent neonatal diabetes either alone (R201C, R201H) or in association with developmental delay, muscle weakness and epilepsy (V59G,V59M).
|
16087682 |
2005 |
|
rs121912438
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Immunocytochemistry and Western blotting showed that a decrease of Hsp25 protein expression occurred in motoneurons of G93A mice prior to the onset of motoneuron death and muscle weakness.
|
15245475 |
2004 |
|
rs118192170
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The presence of an alternate mechanism of muscle weakness in CCD is supported by the observation that muscle cells expressing a CCD mutation in the putative pore-forming segment of RyR1 (I4898T) exhibit a functional uncoupling of SR Ca(2+) release from sarcolemmal depolarization.
|
12161072 |
2002 |
|
rs118192170
|
|
|
0.020 |
GeneticVariation |
BEFREE |
These findings indicate that muscle weakness suffered by individuals possessing the I4898T mutation involves a functional uncoupling of sarcolemmal excitation from SR Ca(2+) release, rather than the expression of overactive or leaky SR Ca(2+) release channels.
|
11274444 |
2001 |
|
rs121912438
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The "double" transgenic mice show accelerated motoneuron death, earlier onset of paresis, and earlier death as compared with hSOD1(G93A) littermates.
|
11114261 |
2000 |
|
rs104894369
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Skinned SOL muscles and ventricular PMs of R58Q animals exhibited lower contractile force that was not observed in the fast-twitch extensor digitorum longus muscles of R58Q vs. wild-type-RLC mice, but mutant animals did not display gross muscle weakness in vivo.
|
30365366 |
2019 |
|
rs199474714
|
|
|
0.010 |
GeneticVariation |
BEFREE |
It is suggested that direct binding of myosin to Tpm may be one оf the reasons for muscle weakness associated with the A155T mutation.
|
31155291 |
2019 |
|
rs35049558
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Skinned SOL muscles and ventricular PMs of R58Q animals exhibited lower contractile force that was not observed in the fast-twitch extensor digitorum longus muscles of R58Q vs. wild-type-RLC mice, but mutant animals did not display gross muscle weakness in vivo.
|
30365366 |
2019 |
|
rs750174047
|
|
|
0.010 |
GeneticVariation |
BEFREE |
It is suggested that direct binding of myosin to Tpm may be one оf the reasons for muscle weakness associated with the A155T mutation.
|
31155291 |
2019 |
|
rs201573646
|
|
|
0.010 |
GeneticVariation |
BEFREE |
H304R/+ mice displayed distal muscle weakness and loss of motor coordination phenotypes consistent with those of individuals with CMT2.
|
29379136 |
2018 |
|
rs117184249
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the present study, a novel mutation in exon 46 at codon 2304 (G2304R) of the SYNE1 gene is described in a Chinese family (proband, mother, and sister) with Emery-Dreifuss muscular dystrophy-like, which clinically manifests as muscle weakness, muscle atrophy, joint contracture, and without significant cardiac abnormalities.
|
28583108 |
2017 |
|
rs1356874787
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, our study revealed a novel missense mutation in PLA2G6 gene (c.3G > T:p.M1I) in one and half-year-old boy with muscle weakness and neurodevelopmental regression (speech, motor and cognition).
|
28821231 |
2017 |
|
rs1373219981
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, our study revealed a novel missense mutation in PLA2G6 gene (c.3G > T:p.M1I) in one and half-year-old boy with muscle weakness and neurodevelopmental regression (speech, motor and cognition).
|
28821231 |
2017 |
|
rs1405183655
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, our study revealed a novel missense mutation in PLA2G6 gene (c.3G > T:p.M1I) in one and half-year-old boy with muscle weakness and neurodevelopmental regression (speech, motor and cognition).
|
28821231 |
2017 |
|
rs1805123
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the subgroup of carriers with syncope and/or cardiac arrest (n=10, 90% women), K897T-KCNH2 polymorphism (p=0.02), periodic paralysis (p=0.004), muscle weakness (p=0.04), palpitations (p=0.04), arrhythmias (biventricular VT, p=0.003; polymorphic VT, p=0.009) were observed more frequently.
|
28336205 |
2017 |
|
rs369447743
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, our study revealed a novel missense mutation in PLA2G6 gene (c.3G > T:p.M1I) in one and half-year-old boy with muscle weakness and neurodevelopmental regression (speech, motor and cognition).
|
28821231 |
2017 |
|
rs57965306
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study documents distinct signs of normal and R349P mutant desmin-related remodeling of the 3D myofibrillar architecture during aging, which provides a structural basis for the progressive muscle weakness.
|
28715662 |
2017 |
|
rs746673818
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, our study revealed a novel missense mutation in PLA2G6 gene (c.3G > T:p.M1I) in one and half-year-old boy with muscle weakness and neurodevelopmental regression (speech, motor and cognition).
|
28821231 |
2017 |
|
rs764492939
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, our study revealed a novel missense mutation in PLA2G6 gene (c.3G > T:p.M1I) in one and half-year-old boy with muscle weakness and neurodevelopmental regression (speech, motor and cognition).
|
28821231 |
2017 |