Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy

Patients with Dunnigan-type familial partial lipodystrophy (FPLD) are born with normal fat distribution, but after puberty experience regional and progressive adipocyte degeneration, often associated with profound insulin resistance and diabetes. Recently, the FPLD gene was mapped to chromosome 1q21...

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Veröffentlicht in:	Human molecular genetics 2000, Vol.9 (1), p.109-112
Hauptverfasser:	HENIAN CAO, HEGELE, R. A
Format:	Artikel
Sprache:	eng
Schlagworte:	Adipocytes - pathology Age Factors Biological and medical sciences Body Weight - genetics Canada chromosome 1 Codon Emery-Dreifuss muscular dystrophy Errors of metabolism Female FPLD gene Heterozygote Humans Laminin - genetics Laminin - metabolism lamins Lipids (lysosomal enzyme disorders, storage diseases) Lipodystrophy - genetics LMNA gene Male Medical sciences Metabolic diseases Mutation Mutation, Missense Nuclear Proteins - genetics Nuclear Proteins - metabolism Pedigree
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