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 |
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 |
FHL1-null mice develop age-dependent myopathy and increased autophagic activity.
|
30083183 |
2018 |
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 |
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 |
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 |
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 |
Four-and-a-half LIM domains protein 1 (FHL1) mutations are associated with human myopathies.
|
29521230 |
2017 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
LHGDN |
Mutation screening of FHL1 in a myopathy family from the UK exhibiting an almost identical phenotype revealed a 3 bp insertion mutation within the second LIM domain.
|
18179888 |
2008 |
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 |
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 |
GeneticVariation
|
group |
BEFREE |
Mutation screening of the FHL1 gene should be considered for patients with uncharacterized myopathies and cardiomyopathies.
|
26933038 |
2016 |
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Mutation screening of FHL1 in a myopathy family from the UK exhibiting an almost identical phenotype revealed a 3 bp insertion mutation within the second LIM domain.
|
18179888 |
2008 |
Myopathy
|
0.200 |
Biomarker
|
group |
HPO |
|
|
|
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 |
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 |
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 |