珍珠和:ATX-FGF14模仿自身免疫病理学
Yoji Hoshina1, Melissa A Wright2, Judith E A Warner2
1From the Department of Neurology (Y.H., M.A.W., J.E.A.W., S.M.P., E.S., S.L.C.), Department of Ophthalmology and Visual Sciences (J.E.A.W.), Department of Radiology (T.R., K.L.S.), University of Utah; and George E. Wahlen Veterans Affairs Medical Center (S.L.C.), Salt Lake City, UT. yojihoshina0106@gmail.com.
Neurology
|July 17, 2023
概括
自体主导脊髓脑动症27 (ATX-FGF14) 诊断可能因症状变化而延迟. 详细的家族病史和基因检测对于准确的鉴定至关重要,尤其是在与自身免疫性疾病区分时.
科学领域:
- 神经遗传学 神经遗传学
- 自体主导性疾病 自体主导性疾病
- 遗传神经学 遗传神经学
背景情况:
- 自体主导脊髓脑动27 (ATX-FGF14) 是由纤维细胞生长因子14 (FGF14) 基因的病原变异引起的.
- 可变的表现型表达通常会使诊断复杂化,特别是在缺乏已知的家族病史的患者中.
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