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Updated: Jun 17, 2025

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在两个患有JAG2关联四肢腰带肌肉发育不良症的家族中,出现了三种新的误解变异

Lein Dofash1, Krishnan Lyengar2, Nolette Pereira3

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

Neuromuscular disorders : NMD
|August 9, 2024
PubMed
概括

肢体带肌肉衰竭27型与JAG2基因变异有关. 在澳大利亚家庭中发现了新型变异,呈现出童年开始的肌肉衰弱和明显的MRI和转录组发现.

关键词:
美国特工监察团2 JAG2肢体腰带肌肉缩症 肢体腰带肌肉缩症没有口的信号.

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