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中文Congenital Myopathy 13 (CMYP13)
Alias:
Native American Myopathy
Bailey-Bloch Congenital Myopathy
Congenital Myopathy-Cleft Palate-Malignant Hyperthermia Syndrome
Myopathy, Congenital, Bailey-Bloch
Cmyp13
Mypbb
Nam
Myopathy, Congenital, with Myopathic Facies, Scoliosis, and Malignant Hyperthermia
Congenital Myopathy with Cleft Palate and Malignant Hyperthermia
Myopathy, Congenital, Baily-Bloch
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先天性肌病13，也称为原住民肌病，与先天性肌病和恶性高热易感性有关。与先天性肌病13有关的重要基因是STAC3（SH3和半胱氨酸丰富域3），其相关通路/超通路包括子宫肌松弛和收缩通路以及前体蛋白介导的信号通路。附属组织包括骨骼肌，相关表型为肌肉无力和肌病面容。
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MALACARDS
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