Key result
LMNA missense variants expressing less mutant lamin show a more favorable clinical trajectory.
Why the study?
The clinical outcomes and phenotype variability of LMNA missense mutations in cardiolaminopathies are poorly understood, complicating risk stratification and management.
Design
Editorial discussing clinical and genetic aspects of LMNA missense mutations
Authors
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May inform LMNA cardiomyopathy prognosis; leaves open validation of expression ratios for personalized risk stratification.
The editorial highlights the increasing recognition of phenotypic variability in LMNA missense mutations and emphasizes the need for functional studies and personalized management to predict clinical expression and outcomes.
Captur et al. (2018) conducted an editorial in Cardiolaminopathies. LMNA missense mutations was evaluated. LMNA missense mutations exhibit wide phenotypic variability, with variants like p.Arg216Cys expressing less mutant lamin (30:70 mut/wt) and showing a more favorable clinical trajectory.
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