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Article

Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family.

Neurologia i neurochirurgia polska - 1 Jan 2000

Drac Hanna, Madej-Pilarczyk Agnieszka, Gospodarczyk-Szot Krystyna, Gaweł Małgorzata, Kwieciński Hubert, Hausmanowa-Petrusewicz Irena

Abstract excerpt

Familial partial lipodystrophy (FPLD) belongs to the family of laminopathies - disorders associated with mutation in the lamin A/C gene (LMNA). FPLD is characterized by loss of subcutaneous adipose tissue from the limbs, trunk and buttocks, with its concomitant accumulation on the face, neck and intra-abdominal region, and by metabolic disorders. We present the first Polish family with FPLD confirmed genetically....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 20625965
DOI: 10.1016/s0028-3843(14)60044-x

Genes

LMNA

Variants

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