FLNC, filamin C, 2318

N. diseases: 132; N. variants: 56
Disease: Myofibrillar Myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2678065
Disease: Myofibrillar Myopathy
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
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.200 Biomarker disease BEFREE We report three patients with a rare filamin C myofibrillar myopathy. 30496909 2019
CUI: C2678065
Disease: Myofibrillar Myopathy
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
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.200 GeneticVariation disease BEFREE Mutations in the filamin C gene (FLNC) have previously been identified in patients with MFM. 31421687 2019