[HTML][HTML] Clinical and molecular characterization of a severe form of partial lipodystrophy expanding the phenotype of PPARγ deficiency [S]
PM Campeau, O Astapova, R Martins, J Bergeron… - Journal of Lipid …, 2012 - ASBMB
Familial partial lipodystrophy (FPLD) is characterized by abnormal fat distribution and a
metabolic syndrome with hypertriglyceridemia. We identified a family with a severe form of
FPLD3 with never-reported clinical features and a novel mutation affecting the DNA binding
domain of PPARγ (E157D). Apart from the lipodystrophy and severe metabolic syndrome,
individuals presented musculoskeletal and hematological issues. E157D heterozygotes had
a muscular habitus yet displayed muscle weakness and myopathy. Also, E157D …
metabolic syndrome with hypertriglyceridemia. We identified a family with a severe form of
FPLD3 with never-reported clinical features and a novel mutation affecting the DNA binding
domain of PPARγ (E157D). Apart from the lipodystrophy and severe metabolic syndrome,
individuals presented musculoskeletal and hematological issues. E157D heterozygotes had
a muscular habitus yet displayed muscle weakness and myopathy. Also, E157D …