A case of familial partial lipodystrophy caused by a novel lamin A/C (LMNA)mutation in exon 1 (D47N)
Makaleler > Tam Makale · 2016
Yazarlar: Nilufer Ozdemir Kutbay, Banu Pınar ŞARER YÜREKLİ, HÜSEYİN ONAY, Canan Tuncer Altay, Tahir ATİK, Zeliha Hekimsoy, Lütfiye Füsun SAYGILI, Baris Akinci
EUROPEAN JOURNAL OF INTERNAL MEDICINE, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2016, cilt 29, ss 37-39
DOI: 10.1016/j.ejim.2015.12.012
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.