BACKGROUND: Variation in lamin A/C results in a spectrum of clinical disease, including arrhythmias and cardiomyopathy. Benign variation is rare, and classification of LMNA missense variants via in silico prediction tools results in a high rate of va...
OBJECTIVE: To demonstrate early aging in patients with lamin A/C (LMNA) gene mutations after hypothesizing that they have a biological age older than chronological age, as such a finding impacts care.
International journal of molecular sciences
39408658
Fabry disease (FD) is an X-linked lysosomal disease whose ultimate consequences are the accumulation of sphingolipids and subsequent inflammatory events, mainly at the endothelial level. The outcomes include different nervous system manifestations as...