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: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies
0.040 GeneticVariation group BEFREE Given these similarities, we believe that the two FLNC mutations alone can be causative of distal myopathy without full penetrance. 29073160 2017
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies
0.040 GeneticVariation group BEFREE We report three patients with a predominantly proximal myopathy due to p.A193T mutation in the actin-binding domain of FLNC, which has so far only been associated with a distal myopathy. 27816332 2017
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies
0.040 GeneticVariation group BEFREE A frameshift mutation in the filamin C rod domain causing haploinsufficiency was also found responsible for distal myopathy with some myofibrillar changes but no protein aggregation typical of myofibrillar myopathies. 22961544 2012
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies
0.040 GeneticVariation group BEFREE We conclude filamin C ABD mutations cause a recognizable distal myopathy, most likely through increased actin affinity, similar to the pathological mechanism of filamin A and filamin B ABD mutations. 21620354 2011