FLNC, filamin C, 2318

N. diseases: 132; N. variants: 56
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026848
Disease: Myopathy
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
CUI: C0026848
Disease: Myopathy
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
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 Biomarker group BEFREE Muscle imaging has an important role in distinguishing the different filamin-C myopathy types. 27816332 2017
CUI: C0026848
Disease: Myopathy
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
CUI: C0026848
Disease: Myopathy
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
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 Biomarker group BEFREE Filamin C-related myopathies: pathology and mechanisms. 23109048 2013
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 GeneticVariation group BEFREE Mutations in FLNC cause two distinct types of myopathy. 22961544 2012
CUI: C0026848
Disease: Myopathy
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
CUI: C0026848
Disease: Myopathy
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
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 GeneticVariation group BEFREE Overall, 50 patients with a phenotype resembling filamin myopathy have been screened for mutations in FLNC. 20578970 2010
CUI: C0026848
Disease: Myopathy
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
CUI: C0026848
Disease: Myopathy
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
CUI: C0026848
Disease: Myopathy
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
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 AlteredExpression group LHGDN Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle. 12480088 2003
CUI: C0026848
Disease: Myopathy
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
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 Biomarker group HPO