Masanori Iwanishi Choka Azuma Yuji Tezuka Yukako Yamamoto Jun Ito-Kobayashi Miki Washiyama Toru Kusakabe Shingo Kikugawa
10.2169/internalmedicine.4042-19
Intern Med
2020;59(20):2529-2537.
familial partial lipodystrophy 1 moyamoya disease mysterin mysterin mutation pr4810 k partial lipodystrophy
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/33055470/
Adenosine Triphosphatases / genetics Lipodystrophy, Familial Partial / genetics Moyamoya Disease / genetics Polymorphism, Genetic Ubiquitin-Protein Ligases / genetics
Adenosine Triphosphatases / genetics Lipodystrophy, Familial Partial / genetics Moyamoya Disease / genetics Polymorphism, Genetic Ubiquitin-Protein Ligases / genetics Case Reports Aged Arm / diagnostic imaging Atherosclerosis / genetics Body Fat Distribution Brain / diagnostic imaging Brain / pathology Diabetes Mellitus, Type 2 / complications Exome Sequencing Female Genetic Predisposition to Disease Humans Japan Lipodystrophy, Familial Partial / complications Lipodystrophy, Familial Partial / diagnostic imaging Magnetic Resonance Imaging Middle Aged Pedigree Risk Factors Subcutaneous Fat / diagnostic imaging RNF213 protein, human Ubiquitin-Protein Ligases Adenosine Triphosphatases
PMC7662064
33055470
Observation of p.R4810K, a Polymorphism of the Mysterin Gene, the Susceptibility Gene for Moyamoya Disease, in Two Female Japanese Diabetic Patients with Familial Partial Lipodystrophy 1
2020