LMNA-associated partial lipodystrophy: anticipation of metabolic complications

Conclusions This study is a rare example of anticipation unrelated to a trinucleotide expansion. Discovery of this early occurrence of metabolic complications in young generations underlines the utility of presymptomatic genetic diagnosis, with careful metabolic screening and preventive lifestyle in all at-risk individuals.
Source: Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Phenotypes Source Type: research