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

Mysterin, which was recently shown to play an important role in maintaining cellular fat storage, has been identified to be the susceptibility gene for moyamoya disease (MMD). We encountered some female Japanese patients with partial lipodystrophy and MMD-like vascular lesions. This prompted us to e...

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Detalles Bibliográficos
Autores principales: Iwanishi, Masanori, Azuma, Choka, Tezuka, Yuji, Yamamoto, Yukako, Ito-Kobayashi, Jun, Washiyama, Miki, Kusakabe, Toru, Kikugawa, Shingo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7662064/
https://www.ncbi.nlm.nih.gov/pubmed/33055470
http://dx.doi.org/10.2169/internalmedicine.4042-19

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7662064/
https://www.ncbi.nlm.nih.gov/pubmed/33055470
http://dx.doi.org/10.2169/internalmedicine.4042-19

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