FILAMIN C MISSENSE VARIANT ASSOCIATED WITH SEVERE RIGHT ATRIAL DISEASE AND SKELETAL MYOPATHY

2021 ◽  
Author(s):  
Giulio Conte ◽  
Flavia Piciacchia ◽  
Argelia Medeiros Domingo ◽  
Susanna Grego ◽  
Paolo Ripellino ◽  
...  
Keyword(s):  
Missense Variant ◽  
Right Atrial ◽  
Skeletal Myopathy ◽  
Filamin C

scholarly journals Functional Validation of a Pathogenic Missense Variant in Human Filamin C Cardiomyopathy through Disruption of a Zebrafish Homologue Recapitulates Cardiac Disease

2021 ◽  
Vol 40 (4) ◽  
pp. S237
Author(s):  
E. Fung ◽  
D. Guo ◽  
W. Zhu ◽  
B.N. Ahmadabadi ◽  
C. Lee ◽  
...  
Keyword(s):  
Cardiac Disease ◽  
Missense Variant ◽  
Functional Validation ◽  
Filamin C

scholarly journals A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers

2020 ◽  
Vol 79 (8) ◽  
pp. 908-914 ◽  
Author(s):  
Teresinha Evangelista ◽  
Xavière Lornage ◽  
Pierre G Carlier ◽  
Guillaume Bassez ◽  
Guy Brochier ◽  
...  
Keyword(s):  
Missense Variant ◽  
Nemaline Myopathy ◽  
Actin Binding ◽  
Heterozygous Mutation ◽  
Mri Findings ◽  
Muscle Mri ◽  
Pathogenic Variants ◽  
Actin Binding Domain ◽  
Ring Fibers ◽  
Filamin C

Abstract Autosomal dominant pathogenic variants in the filamin C gene (FLNC) have been associated with myofibrillar myopathies, distal myopathies, and isolated cardiomyopathies. Mutations in different functional domains of FLNC can cause various clinical phenotypes. A novel heterozygous missense variant c.608G>A, p.(Cys203Tyr) in the actin binding domain of FLCN was found to cause an upper limb distal myopathy (MIM #614065). The muscle MRI findings are similar to those observed in FLNC-myofibrillar myopathy (MIM #609524). However, the muscle biopsy revealed >20% of muscle fibers with nemaline bodies, in addition to numerous ring fibers and a predominance of type 1 fibers. Overall, this case shows some unique and rare aspects of FLNC-myopathy constituting a new morphologic phenotype of FLNC-related myopathies.

6.2 Long-term follow-up of right atrial ablation in atrial fibrillation

EP Europace ◽  
2003 ◽  
Vol 4 ◽  
pp. A9
Author(s):  
L CALO
Keyword(s):  
Atrial Fibrillation ◽  
Right Atrial ◽  
Atrial Ablation ◽  
Long Term Follow Up

P.1.17 Follow-up after right atrial multilinear catheter ablation of atrial fibrillation

EP Europace ◽  
2003 ◽  
Vol 4 ◽  
pp. A37
Author(s):  
C PERINGS
Keyword(s):  
Atrial Fibrillation ◽  
Catheter Ablation ◽  
Right Atrial

Right atrial myxomata

1969 ◽  
Vol 124 (2) ◽  
pp. 206-210 ◽  
Author(s):  
H. W. Ramsey
Keyword(s):  
Right Atrial

Skeletal Myopathy in Transgenic Mice Carrying Human Prototype c-Ha- ras Gene

2002 ◽  
Vol 30 (4) ◽  
pp. 501-506
Author(s):  
Kiyoshi Kobayashi ◽  
Tetsuya Akairi ◽  
Miyoko Okada ◽  
Fumiko Sano ◽  
Toshimi Usui ◽  
...  
Keyword(s):  
Transgenic Mice ◽  
Ras Gene ◽  
Skeletal Myopathy

P3193 Incisional right-atrial reentrant tachycardias: evidence towards a simplified ablation approach

2003 ◽  
Vol 24 (5) ◽  
pp. 597
Author(s):  
H NEUSER
Keyword(s):  
Right Atrial
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