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pro vyhledávání: '"Mariele Anneling"'
Autor:
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
Publikováno v:
HGG Advances, Vol 5, Iss 3, Pp 100288- (2024)
Summary: Biallelic loss-of-function variants in the MUSK gene result in two allelic disorders: (1) congenital myasthenic syndrome (CMS; OMIM: 616325), a neuromuscular disorder that has a range of severity from severe neonatal-onset weakness to mild a
Externí odkaz:
https://doaj.org/article/62fbd441e8164dd983e840f993fde9d1
