|
Myofibrillar Myopathy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the filamin C gene (FLNC) have previously been identified in patients with MFM.
|
31421687 |
2019 |
|
Myofibrillar Myopathy
|
0.200 |
Biomarker
|
disease |
BEFREE |
We report three patients with a rare filamin C myofibrillar myopathy.
|
30496909 |
2019 |
|
Myofibrillar Myopathy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We performed a target gene panel testing for myofibrillar myopathies by NGS approach which identified a novel mutation in exon 3 of FLNC gene (c.A664G:p.M222V), within the N-terminal actin-binding (ABD) domain.
|
30685713 |
2019 |
|
Myofibrillar Myopathy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A case report: a heterozygous deletion (2791_2805 del) in exon 18 of the filamin C gene causing filamin C-related myofibrillar myopathies in a Chinese family.
|
29866061 |
2018 |
|
Myofibrillar Myopathy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This study confirms that truncating variants on myofibrillar myopathies causing genes are frequently associated with dilated cardiomyopathies and also suggest that FLNC mutations could be considered as a common cause of dilated cardiomyopathy.
|
28436997 |
2017 |
|
Myofibrillar Myopathy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In this study, we observed increased passive tension (PT) of skinned myofibers from patients with myofibrillar myopathy (MFM) caused by FLNC mutations (MFM-filaminopathy) and limb-girdle muscular dystrophy type-2A due to CAPN3 mutations (LGMD2A), compared to healthy control myofibers.
|
28915917 |
2017 |
|
Myofibrillar Myopathy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
FLNC mutations have been associated with myofibrillar myopathies, and cardiac involvement has been reported in some carriers.
|
27908349 |
2016 |
|
Myofibrillar Myopathy
|
0.200 |
Biomarker
|
disease |
BEFREE |
FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency.
|
26969713 |
2016 |
|
Myofibrillar Myopathy
|
0.200 |
GeneticVariation
|
disease |
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 |
|
Myofibrillar Myopathy
|
0.200 |
Biomarker
|
disease |
BEFREE |
Our results help to better understand the pathomechanisms and pathophysiology of early stages of FLNc-related myofibrillar myopathy and skeletal and cardiac diseases preceding pathological protein aggregation.
|
27206985 |
2016 |
|
Myofibrillar Myopathy
|
0.200 |
Biomarker
|
disease |
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 |
|
Myofibrillar Myopathy
|
0.200 |
Biomarker
|
disease |
BEFREE |
Mitochondrial changes, including COX-deficient fibers (n = 8), biochemical activities of respiratory chain complexes (n = 7), and multiple mtDNA deletions by long-range PCR (n = 9) were examined in patients with genetically confirmed MFMs [MYOT (n = 2), DES (n = 1), ZASP (n = 2), FLNC (n = 4)] and compared with age and sex matched normal controls (n = 27) and patients with a mitochondrial disorder with multiple mtDNA deletions due to nuclear genetic defects (n = 8).
|
24361111 |
2014 |
|
Myofibrillar Myopathy
|
0.200 |
Biomarker
|
disease |
BEFREE |
More recently, FLNC mutations were also found in families with a distal myopathy phenotype, caused either by mutations in the actin-binding domain of FLNc that result in increased actin-binding and non-specific myopathic abnormalities without myofibrillar myopathy pathology, or a nonsense mutation in the rod domain that leads to RNA instability, haploinsufficiency with decreased expression levels of FLNc in the muscle fibers and myofibrillar abnormalities, but not to the formation of desmin-positive protein aggregates required for the diagnosis of myofibrillar myopathy.
|
23109048 |
2013 |
|
Myofibrillar Myopathy
|
0.200 |
Biomarker
|
disease |
BEFREE |
These proteins included filamin C, other known myofibrillar myopathy associated proteins, and a striking number of filamin C binding partners.
|
23115302 |
2013 |
|
Myofibrillar Myopathy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Analysis of the expanded database allows us to refine clinical and myopathological characteristics of myofibrillar myopathy caused by mutations in the rod domain of filamin C. Biophysical and biochemical studies indicate that certain pathogenic mutations in FLNC cause protein misfolding, which triggers aggregation of the mutant filamin C protein and subsequently involves several other proteins.
|
22961544 |
2012 |
|
Myofibrillar Myopathy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.
|
22806379 |
2012 |
|
Myofibrillar Myopathy
|
0.200 |
Biomarker
|
disease |
BEFREE |
The remarkable similarities in the myopathology between our models and filamin-related myofibrillar myopathy makes them suitable for the study of these diseases and provides unique opportunities for the investigation of the function of filamin C in muscle and development of therapies.
|
22706277 |
2012 |
|
Myofibrillar Myopathy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Myofibrillar myopathies (MFM) are a group of disorders associated with mutations in DES, CRYAB, MYOT, ZASP, FLNC, or BAG3 genes and characterized by disintegration of myofibrils and accumulation of degradation products into intracellular inclusions.
|
21676617 |
2011 |
|
Myofibrillar Myopathy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Linkage studies delineated a 9.76 Mb region on chromosome 7q22.1-q35 containing filamin C (FLNC), a gene previously associated with myofibrillar myopathy.
|
22131542 |
2011 |
|
Myofibrillar Myopathy
|
0.200 |
Biomarker
|
disease |
BEFREE |
The strongest candidate gene was FLNC because filamin C, the encoded protein, is muscle-specific and associated with myofibrillar myopathy.
|
21620354 |
2011 |
|
Myofibrillar Myopathy
|
0.200 |
GeneticVariation
|
disease |
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 |
|
Myofibrillar Myopathy
|
0.200 |
Biomarker
|
disease |
BEFREE |
Immunohistochemistry showed that in MFM only a subset of Z-disc proteins, such as filamin C and its ligands myotilin and Xin, exhibited significant alterations in their localization, whereas other Z-disc proteins like alpha-actinin, myopodin and tritopodin, did not.
|
19151983 |
2009 |
|
Myofibrillar Myopathy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The study results suggest that the novel p.Val930_Thr933del mutation in filamin C is the cause of MFM but also indicate that filamin C mutations are a comparatively rare cause of MFM.
|
19050726 |
2009 |
|
Myofibrillar Myopathy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in alphaB-crystallin, desmin, myotilin, Zasp, or filamin-C can cause MFMs and were detected in 32 of 85 patients of the Mayo MFM cohort.
|
19085932 |
2009 |
|
Myofibrillar Myopathy
|
0.200 |
Biomarker
|
disease |
BEFREE |
The most important recent advance in the myofibrillar myopathies has been the discovery that mutations in Z band alternatively spliced PDZ-containing protein and filamin C, as well as in desmin, alphaB-crystallin and myotilin, result in similar pathologic alterations in skeletal muscle that are typical of myofibrillar myopathy.
|
18769253 |
2008 |