Familial partial lipodystrophy (FPL) is a rare genetic disorder.
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FPL is characterized by selective lack of subcutaneous fat.
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FPL is associated with insulin resistant diabetes.
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Heterozygous mutations in the lamin A/C (LMNA) gene cause FPL2.
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We describe a novel heterozygous missense LMNA mutation, D47N, in exon 1.
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