Population
31 patients from four German families with filaminopathy harboring the p.W2710X mutation in the FLNC gene
Design
Cohort
Authors
Loading...
May warrant cardiac monitoring in FLNC p.W2710X carriers; leaves open prospective validation of risk stratification.
Filaminopathy caused by the FLNC p.W2710X mutation presents with progressive proximal muscle weakness and significant cardiac involvement in approximately one-third of patients.
Kley et al. (2007) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: