Key result
LMNA R482W mutation is linked to early, prominent dyslipidemia in pediatric patients.
Why the study?
Mutations in the LMNA gene cause familial partial lipodystrophy characterized by metabolic abnormalities including hypertriglyceridemia and insulin resistance, but detailed lipoprotein characteristics in affected families are not well described.
Case Report
Dyslipemia is an early and prominent feature in familial partial lipodystrophy caused by the R482W mutation in the LMNA gene, presenting even in childhood.
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Supports early lipid screening in LMNA R482W families; leaves open impact on cardiovascular outcomes.
Hannes Schmidt (2001) conducted a case report in Familial partial lipodystrophy. R482W mutation in the LMNA gene was evaluated on Lipoprotein characteristics and clinical presentation. The R482W mutation in the LMNA gene was associated with early and prominent dyslipemia, with affected children presenting with hyperlipidemia.
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