|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in the four and-a-half LIM domain protein 1 (FHL1) gene or FHL1 protein deletion have been identified as the cause of rare hereditary myopathies or cardiomyopathies.
|
31836140 |
2020 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
We finally concluded he has a FHL1-related myopathy at an extreme end of phenotypic spectrum of FHL1 myopathy, which one might miss to recognize as a form of myopathy.
|
30928807 |
2019 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
FHL1-null mice develop age-dependent myopathy and increased autophagic activity.
|
30083183 |
2018 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Overexpression of FHL1-H123Y, FHL1-C132F or FHL1-C224W in wild-type zebrafish did not induce myopathy in a dominant-negative mode.
|
29735270 |
2018 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Four-and-a-half LIM domains protein 1 (FHL1) mutations are associated with human myopathies.
|
29521230 |
2017 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
It extends the phenotype of FHL1-related myopathies and should prompt future testing in undiagnosed patients who present with unexplained muscle hypertrophy, contractures and rigid spine, particularly if male.
|
27409453 |
2016 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutation screening of the FHL1 gene should be considered for patients with uncharacterized myopathies and cardiomyopathies.
|
26933038 |
2016 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in FHL1 have been associated with diverse X-linked muscle diseases: scapuloperoneal (SP) myopathy, reducing body myopathy, X-linked myopathy with postural muscle atrophy, rigid spine syndrome (RSS) and Emery-Dreifuss muscular dystrophy.
|
25274776 |
2015 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Together, our findings provide evidence that FHL1 may be involved in the pathogenesis not only of genetic FHL1-related myopathies but also of autoimmune IIM.
|
26551678 |
2015 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The boundaries of this concept are still uncertain, and whereas six genes (DES, CRYAB, LDB3/ZASP, MYOT, FLNC and BAG3) are now classically considered as responsible for MFM, other entities such as FHL1 myopathy or Hereditary Myopathy with Early Respiratory Failure linked to mutations of titin can now as well be included in this group.
|
26342832 |
2015 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Protein aggregates, designated 'reducing bodies', that contain mutant FHL1 are detected in RBM muscle but not in several other FHL1 myopathies.
|
24634512 |
2014 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Within this context, among several disorders, four groups of diseases should systematically come to mind including the collagen VI-related myopathies, the Emery-Dreifuss muscular dystrophies, the SEPN1 and FHL1 related myopathies.
|
24021317 |
2014 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Although skeletal muscle involvement is a common finding in FHL1-related diseases, we could exclude myopathy in all mutation carriers.
|
24114807 |
2013 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
As all clinical subtypes and mutations in each exon of the FHL1 gene are associated with myofibrillar alterations and reducing bodies, we would like to suggest terming the whole group as FHL1-associated myopathies.
|
23489660 |
2013 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Our findings expand the morphologic features of RBM, clearly demonstrate the localization of FHL1 in RBs, and further illustrate major morphologic differences among different FHL1-related myopathies.
|
23965743 |
2013 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We describe here a mother, daughter and son suffering from FHL1 myopathy with a mutation in the second LIM domain of fhl1.
|
22541254 |
2012 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
We hypothesized that FHL1, encoding four-and-a-half-LIM domains 1, could be another disease gene since it has been shown to cause distinct myopathies, sometimes associated with cardiomyopathy.
|
22523091 |
2012 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Some pathologic features of the FHL1 myopathies and the myofibrillar myopathies (MFMs) overlap; we therefore searched for mutations in FHL1 in our cohort of 50 patients with genetically undiagnosed MFM.
|
22094483 |
2011 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Because SLIM1 is strongly implicated in the pathogenesis of myopathies and cardiomyopathies, we generated transgenic (TG) mice with cardiac-specific overexpression of human USP15.
|
21219870 |
2011 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in the FHL1 gene are causative for several types of hereditary myopathies including X-linked myopathy with postural muscle atrophy (XMPMA).
|
22053194 |
2011 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Muscle biopsy revealed myopathic changes with FHL1 inclusions that were ubiquitin- and desmin-positive.
|
20633900 |
2010 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Our finding expands the phenotypic spectrum of the recently identified FHL1-associated myopathies and widens the differential diagnosis of Emery-Dreifuss-like syndromes.
|
20186852 |
2010 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Importantly, 27 FHL1 genetic mutations have been identified that result in at least six different X-linked myopathies, with patients often presenting with cardiovascular disease.
|
20874719 |
2010 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Our aim was to define the clinical and morphological phenotype of this myopathy and to assess the mutational spectrum of FHL1 mutations in reducing body myopathy in a larger cohort of patients.
|
19181672 |
2009 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
LHGDN |
Our aim was to define the clinical and morphological phenotype of this myopathy and to assess the mutational spectrum of FHL1 mutations in reducing body myopathy in a larger cohort of patients.
|
19181672 |
2009 |