A case of familial partial lipodystrophy caused by a novel lamin A/C (LMNA)mutation in exon 1 (D47N)


Kutbay N. O. , Yurekli B. S. , ONAY H. , Altay C. T. , ATİK T. , Hekimsoy Z., ...Daha Fazla

EUROPEAN JOURNAL OF INTERNAL MEDICINE, cilt.29, ss.37-39, 2016 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 29
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1016/j.ejim.2015.12.012
  • Dergi Adı: EUROPEAN JOURNAL OF INTERNAL MEDICINE
  • Sayfa Sayıları: ss.37-39

Özet

Background: Familial partial lipodystrophy (FPL) is a rare genetic disorder characterized by selective lack of subcutaneous fat which is associated with insulin resistant diabetes. The Dunnigan variety (FPL2) is caused by several missense mutations in the lamin A/C (LMNA) gene, most of which are typically located in exon 8 at the codon position 482.