Heterogeneity of nuclear lamin A mutations in dunnigan-type familial partial lipodystrophy

Journal of Clinical Endocrinology and Metabolism

Volumn 85, Issue 9, 2000, Pages 3431-3435

  Hegele, Robert A ^a   Cao, Henian ^a   Anderson, Carol M ^a   Hramiak, Irene M ^a  

^a ROBARTS RESEARCH INSTITUTE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

C PEPTIDE; CREATINE KINASE; GLUCOSE; INSULIN; LAMIN A; LIPOPROTEIN;

ADULT; AGED; ALLELE; ARTICLE; CANADA; CLINICAL ARTICLE; DIABETES MELLITUS; DISEASE PREDISPOSITION; DISEASE SEVERITY; EVOLUTION; GENE MUTATION; GENETIC HETEROGENEITY; GLUCOSE BLOOD LEVEL; HUMAN; ISCHEMIC HEART DISEASE; LIPODYSTROPHY; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL;

EID: 0033694702     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.85.9.3431     Document Type: Article

References (9)

1. Familial partial lipodystrophy
2. Partial lipoatrophy with insulin resistant diabetes and hyperlipidemia (Dunnigan syndrome)
3. Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety)
4. Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy
5. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
6. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction system disease
7. Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C
8. Nuclear lamins: Their structure, assembly and interactions
9. Leptin reverses insulin resistance and diabetes mellitus in mice with congenital lipodystrophy