|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in DES, encoding desmin protein, are associated with different kinds of skeletal and/or cardiac myopathies.
|
30908796 |
2019 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in the Des gene coding for the muscle-specific intermediate filament protein desmin lead to myopathies and cardiomyopathies.
|
31341183 |
2019 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Desmin (<i>DES</i>) mutations cause severe skeletal and cardiac muscle disease with heterogeneous phenotypes.
|
29212896 |
2018 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We identified a novel desmin missense mutation, Thr219Pro, in the homozygous state in a patient, who first manifested with hypertrophic cardiomyopathy and later progressed to general myopathy.
|
29167554 |
2018 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Our study has relevance for the clinical and genetic interpretation of further DES indel mutations causing cardiac or skeletal myopathies and might be helpful for risk stratification.
|
29274115 |
2018 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The desmin network's pivotal role in myocytes is evident since mutations in the human desmin gene cause severe myopathies and cardiomyopathies.
|
28469177 |
2017 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Desminopathies caused by the mutation in the gene coding for desmin are genetically protein aggregation myopathies.
|
27941998 |
2016 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
The patients were desmin-null and had myopathy, cardiomyopathy, and a congenital myasthenic syndrome.
|
27440146 |
2016 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Due to the rarity of these myopathies, if some clinical patterns (such as distal myopathy associated with cardiomyopathy due to desmin mutations) are now well known, surprises remain possible and should lead to systematic testing of the known genes in case of a typical histological presentation.
|
26342832 |
2015 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Desminopathies belong to a family of muscle disorders called myofibrillar myopathies that are caused by Desmin mutations and lead to protein aggregates in muscle fibers.
|
26051936 |
2015 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations of the human desmin gene on chromosome 2q35 cause autosomal dominant, autosomal recessive and sporadic forms of protein aggregation myopathies and cardiomyopathies.
|
25394388 |
2015 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
The protein aggregation myopathy Limb-Girdle Muscular Dystrophy 1D (LGMD1D) is caused by mutations of amino acids Phe89 or Phe93 of DNAJB6, a co-chaperone of the HSP70 anti-aggregation protein.
|
26205529 |
2015 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Transgenic mice expressing the LGMD1D mutant, F93L, in DNAJB6b under a muscle-specific promoter became weak, had early lethality and developed muscle pathology consistent with myopathy after 2 months; whereas mice expressing the same F93L mutation in DNAJB6a or overexpressing DNAJB6a or DNAJB6b wild-type transgenes remained unaffected after 1 year.
|
26362252 |
2015 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
In human, mutations affecting desmin expression or promoting its aggregation lead to skeletal (desmin-related myopathies), or cardiac (desmin-related cardiomyopathy) phenotypes, or both.
|
25358400 |
2015 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We performed whole exome sequencing on two families with autosomal dominantly inherited myopathies with autophagic vacuolar pathology and surprisingly identified a p.R454W tail domain mutation and a novel p.S6W head domain mutation in desmin, DES.
|
25557463 |
2015 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in the gene coding for desmin (DES) cause skeletal myopathies often combined with cardiomyopathy, or isolated cardiomyopathies.
|
25541946 |
2014 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Phosphorylation of desmin is also implicated in many forms of desmin-related myopathies (desminopathies).
|
24091796 |
2014 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
DNAJB6 mutations cause an autosomal dominant myopathy that can manifest as limb-girdle muscular dystrophy (LGMD1D/1E) or distal-predominant myopathy.
|
24170373 |
2014 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in the αB-crystallin gene (CRYAB) have been reported in desmin-related myopathies, with or without cardiac involvement.
|
23590293 |
2014 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
A novel heterozygous deletion-insertion mutation in the desmin gene causes complete atrioventricular block and mild myopathy.
|
23036309 |
2013 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Mutations in the DES gene coding for the intermediate filament protein desmin may cause skeletal and cardiac myopathies, which are frequently characterized by cytoplasmic aggregates of desmin and associated proteins at the cellular level.
|
22403400 |
2012 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Heterozygous mutations of the human desmin gene on chromosome 2q35 cause hereditary and sporadic myopathies and cardiomyopathies.
|
22386993 |
2012 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Defects in IF stabilization and mitochondrial dynamics appear as common physiopathological features of centronuclear myopathies and desmin-related myopathies.
|
21135508 |
2011 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Inherited mutations in the gene coding for the intermediate filament protein desmin have been demonstrated to cause severe skeletal and cardiac myopathies.
|
20171226 |
2010 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Muscle biopsy revealed myopathic changes with FHL1 inclusions that were ubiquitin- and desmin-positive.
|
20633900 |
2010 |