Literature DB >> 3519971

Partial lipoatrophy with insulin resistant diabetes and hyperlipidaemia (Dunnigan syndrome).

J Burn, M Baraitser.   

Abstract

A family is presented in which at least five members in three generations suffered a characteristic syndrome of generalised lipoatrophy, sparing the head and neck, and muscle hypertrophy variably associated with high plasma insulin and lipid levels and insulin resistant diabetes. This pedigree contains the first documented affected male with the syndrome. The diagnosis is of practical importance since close medical supervision of asymptomatic gene carriers is likely to improve their prognosis. The findings in this family have relevance also to the study of insulin and lipid metabolism.

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Year:  1986        PMID: 3519971      PMCID: PMC1049566          DOI: 10.1136/jmg.23.2.128

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  4 in total

1.  Metabolic studies in familial partial lipodystrophy of the lower trunk and extremities.

Authors:  M B Davidson; R T Young
Journal:  Diabetologia       Date:  1975-12       Impact factor: 10.122

2.  Familial lipoatrophic diabetes with dominant transmission. A new syndrome.

Authors:  M G Dunnigan; M A Cochrane; A Kelly; J W Scott
Journal:  Q J Med       Date:  1974-01

3.  Lipodystrophy of the extremities. A dominantly inherited syndrome associated with lipatrophic diabetes.

Authors:  J Köbberling; B Willms; R Kattermann; W Creutzfeldt
Journal:  Humangenetik       Date:  1975-09-10

4.  X-linked dominant inherited diseases with lethality in hemizygous males.

Authors:  R Wettke-Schäfer; G Kantner
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

  4 in total
  6 in total

Review 1.  Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases.

Authors:  Harjot K Saini-Chohan; Ryan W Mitchell; Frédéric M Vaz; Teresa Zelinski; Grant M Hatch
Journal:  J Lipid Res       Date:  2011-11-07       Impact factor: 5.922

2.  A defect in the regional deposition of adipose tissue (partial lipodystrophy) is encoded by a gene at chromosome 1q.

Authors:  S N Jackson; J Pinkney; A Bargiotta; C D Veal; T A Howlett; P G McNally; R Corral; A Johnson; R C Trembath
Journal:  Am J Hum Genet       Date:  1998-08       Impact factor: 11.025

3.  Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia, dyslipidemia, hypertension, and diabetes.

Authors:  R A Hegele; C M Anderson; J Wang; D C Jones; H Cao
Journal:  Genome Res       Date:  2000-05       Impact factor: 9.043

Review 4.  Insulin resistance in human partial lipodystrophy.

Authors:  R A Hegele
Journal:  Curr Atheroscler Rep       Date:  2000-09       Impact factor: 5.113

5.  Retinal pigment epithelial change and partial lipodystrophy.

Authors:  T M Davis; D R Holdright; W E Schulenberg; R C Turner; G F Joplin
Journal:  Postgrad Med J       Date:  1988-11       Impact factor: 2.401

6.  Subtotal lipodystrophy with autosomal dominant inheritance.

Authors:  J Lloyd; P I Mansell; J P Reckless
Journal:  J R Soc Med       Date:  1993-08       Impact factor: 18.000

  6 in total

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