The Severity of MUSK Pathogenic Variants is Predicted by the Protein Domain They Disrupt

Benjamin T. Cocanougher,Samuel W. Liu,Ludmila Francescatto, Alexander Behura, Mariele Anneling,David G. Jackson,Kristen L. Deak,Chi D. Hornik,Mai K. Elmallah,Carolyn E. Pizoli,Edward C. Smith, Khoon Ghee Queenie Tan,Marie T. Mcdonald

HUMAN GENETICS AND GENOMICS ADVANCES（2024）

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Key words

MUSK gene,Congenital myasthenic syndrome (CMS),Fetal akinesia deformation sequence (FADS),Neuromuscular junction (NMJ),MuSK protein structure,Domain-specific genotype-phenotype correlations

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