Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Differently from previously identified variants, our family showed a predominant leg involvement and myofibrillar aggregates, thus further expanding the spectrum of Filamin C related myopathies.
|
30685713 |
2019 |
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
In humans, mutations in the actin-binding protein Filamin-C result in myopathies, but the underlying molecular function is not well understood.
|
28732005 |
2017 |
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Muscle imaging has an important role in distinguishing the different filamin-C myopathy types.
|
27816332 |
2017 |
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
To investigate the mechanism of disease in FLNC<sup>W2710X</sup> myopathy we overexpressed fluorescently tagged FLNC or FLNC<sup>W2710X</sup> in zebrafish.
|
26969713 |
2016 |
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
This is an original FLNC mutation in a MFM family with an atypical clinical and histopathological presentation, given the presence of significantly focal lesions and prominent sarcoplasmic masses in muscle biopsies and the constant heart involvement preceding significantly the onset of the myopathy.
|
27633507 |
2016 |
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Filamin C-related myopathies: pathology and mechanisms.
|
23109048 |
2013 |
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in FLNC cause two distinct types of myopathy.
|
22961544 |
2012 |
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
We conclude that filamin C is a dosage-sensitive gene and that FLNC haploinsufficiency can cause a specific type of myopathy in humans.
|
22131542 |
2011 |
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Filamin myopathy is associated with mutations in the filamin C gene (FLNC) and is a myofibrillar myopathy characterized by focal myofibrillar destruction and cytoplasmic aggregates containing several Z-disk-related proteins.
|
20697107 |
2010 |
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Overall, 50 patients with a phenotype resembling filamin myopathy have been screened for mutations in FLNC.
|
20578970 |
2010 |
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in myotilin (MYOT), ZASP and filamin C (FLNC) encoding genes cause autosomal dominant myopathy that manifests in adulthood.
|
19181098 |
2008 |
Myopathy
|
0.200 |
GeneticVariation
|
group |
LHGDN |
In an extended German pedigree with a novel form of MFM characterized by clinical features of a limb-girdle myopathy and morphological features of MFM, we identified a co-segregating, heterozygous nonsense mutation (8130G-->A; W2710X) in the filamin c gene (FLNC) on chromosome 7q32.1.
|
15929027 |
2005 |
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Here, we show that KY interacts with several sarcomeric cytoskeletal proteins including, amongst others, filamin C and the slow isoform of the myosin-binding protein C. These interactions were confirmed in vitro and because of its central role in skeletal muscle disease, characterized in more detail for filamin C. A role for KY in regulating filamin C function in vivo is supported by the expression analysis of filamin C in the null ky mouse mutant, where distinct irregular subcellular localization of filamin C was found in subsets of muscle fibres, which appears to be a specific outcome of KY deficiency.
|
15385448 |
2004 |
Myopathy
|
0.200 |
AlteredExpression
|
group |
LHGDN |
Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle.
|
12480088 |
2003 |
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
To establish if ABP-280 may be a candidate for one of the muscle disease localized by linkage analysis to distal Xq28 we looked for alternative forms of ABP-280 mRNA.
|
7689010 |
1993 |
Myopathy
|
0.200 |
Biomarker
|
group |
HPO |
|
|
|