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Updated: Feb 14, 2026

Myo-mechanical Analysis of Isolated Skeletal Muscle
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Published on: February 22, 2011

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在TUBA4A中错误的变异会导致肌管蛋白病变

Mridul Johari1, Chiara Folland1, Yoshihiko Saito2

  • 1Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, 6009, Australia.

Brain : a journal of neurology
|February 12, 2026
PubMed
概括

这项研究确定了新的TUBA4A基因变异,导致肌肉疾病,包括肌肉病变和多系统蛋白病变,扩大了已知的管氨酸病变谱超出神经退行.

关键词:
自自是自的过程.基因型-表型相关性相关性蛋白质聚合物肌病症 蛋白质聚合物肌病症管道中的管道.输卵管内病变 (tubulinopathy) 是一种输卵管病变.

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