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Updated: May 27, 2025

Functional Characterization of Endogenously Expressed Human RYR1 Variants
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由于PYROXD1变异而导致的疲劳性肌肉病的罕见病例

Dipti Baskar1, Aneesha Thomas1, Vijay Kumar Boddu1

  • 1Department of Neurology, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India.

Journal of neuromuscular diseases
|February 20, 2025
PubMed
概括

我们报告了印度第一个与Pyridine核酸二硫化氧降解酶域1 (PYROXD1) 相关的肌肉病变的病例. 这种超罕见的先天性肌肉病症呈现出了新的特征,扩大了其已知的范围.

关键词:
印度 印度 印度在PYROXD1肌病症.肌肉疲劳性 肌肉疲劳性

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