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

Kutbay N. O., ŞARER YÜREKLİ B. P., Onay H., ALTAY C., ATİK T., HEKİMSOY Z., ...Daha Fazla

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

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 29
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1016/j.ejim.2015.12.012
  • Dergi Adı: EUROPEAN JOURNAL OF INTERNAL MEDICINE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.37-39
  • Anahtar Kelimeler: Diabetes, Insulin Resistance, Lipodystrophy, LMNA
  • Dokuz Eylül Üniversitesi Adresli: Evet

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.