دورية أكاديمية
Familial partial lipodystrophy (Dunnigan syndrome) due to LMNA gene mutation: The first description of its clinical case in Russia
| العنوان: | Familial partial lipodystrophy (Dunnigan syndrome) due to LMNA gene mutation: The first description of its clinical case in Russia |
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| المؤلفون: | E L Sorkina, M F Kalashnikova, G A Melnichenko, A N Tyulpakov |
| المصدر: | Терапевтический архив, Vol 87, Iss 3, Pp 83-87 (2015) |
| بيانات النشر: | "Consilium Medicum" Publishing house, 2015. |
| سنة النشر: | 2015 |
| المجموعة: | LCC:Medicine |
| مصطلحات موضوعية: | lipodystrophy, lmna, insulin resistance, diabetes mellitus, acanthosis nigricans, Medicine |
| الوصف: | Hereditary lipodystrophies (HLD) are a heterogeneous group of rare diseases characterized by a complete or partial loss of subcutaneous fat and by the development of metabolic disturbances: diabetes mellitus with obvious insulin resistance and acanthosis nigricans, dyslipidemia, hepatic steatosis, hypertension, and polycystic ovary syndrome. The laminopathy variant familial partial lipodystrophy type 2 or Dunnigan syndrome (FPLD2) is the most common cause of partial LD. The paper describes a family (3 clinical cases) with FPLD2 caused by heterozygous R482W missense mutations in the gene encoding the protein lamin A/C (LMNA; 150330). This observation demonstrates that specialists should be more aware of this disease and make a timely diagnose in cases of concurrent severe metabolic disturbances at a young age, which contributes to more effective treatment of patients and to medical genetic counseling of their families. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | Russian |
| تدمد: | 0040-3660 2309-5342 |
| Relation: | https://ter-arkhiv.ru/0040-3660/article/view/31730; https://doaj.org/toc/0040-3660; https://doaj.org/toc/2309-5342 |
| URL الوصول: | https://doaj.org/article/d1e16c3d847c4cbca4e0974fa86d1ee1 |
| رقم الأكسشن: | edsdoj.1e16c3d847c4cbca4e0974fa86d1ee1 |
| قاعدة البيانات: | Directory of Open Access Journals |
| تدمد: | 00403660 23095342 |
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