The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt-Reference-Cited by-同舟云学术

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The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt

Published:2024-07 Issue:3 Volume:5 Page:100288
ISSN:2666-2477
Container-title:Human Genetics and Genomics Advances
language:en
Short-container-title:Human Genetics and Genomics Advances

Author:

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

Funder

National Institutes of Health

NHLBI

Publisher

Elsevier BV

Reference51 articles.

1. The congenital myasthenic syndromes: expanding genetic and phenotypic spectrums and refining treatment strategies;Vanhaesebrouck;Curr. Opin. Neurol.,2019

2. Congenital Myasthenic Syndromes Overview;Abicht,2021

3. MUSK, a new target for mutations causing congenital myasthenic syndrome;Chevessier;Hum. Mol. Genet.,2004

4. Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness;Owen;Am. J. Med. Genet.,2018

5. Receptor tyrosine kinase specific for the skeletal muscle lineage: expression in embryonic muscle, at the neuromuscular junction, and after injury;Valenzuela;Neuron,1995

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