Familial partial lipodystrophy linked to a novel peroxisome proliferator activator receptor -gamma (PPARG) mutation, H449L: a comparison of people with this mutation and those with classic codon 482 Lamin A/C (LMNA) mutations

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Demir T., Onay H., Savage D. B., Temeloglu E., KUBAT ÜZÜM A., Kadioglu P., ...More

DIABETIC MEDICINE, vol.33, no.10, pp.1445-1450, 2016 (SCI-Expanded, Scopus)

  • Publication Type: Article / Article
  • Volume: 33 Issue: 10
  • Publication Date: 2016
  • Doi Number: 10.1111/dme.13061
  • Journal Name: DIABETIC MEDICINE
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1445-1450
  • Open Archive Collection: AVESIS Open Access Collection
  • Dokuz Eylül University Affiliated: Yes

Abstract

AimsTo describe the phenotype associated with a novel heterozygous missense PPARG mutation discovered in a Turkish family and to compare the fat distribution and metabolic characteristics of subjects with the peroxisome proliferator activator receptor - (PPARG) mutation with those of a cluster of patients with familial partial lipodystrophy with classic codon 482 Lamin A/C (LMNA) mutations.