Associated Papers
The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt.
Cocanougher BT et al.
Hgg Advances, 2024
38566418 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.
Owen D et al.
American Journal of Medical Genetics. Part A, 2018
Limb-girdle congenital myasthenic syndrome in a Chinese family with novel mutations in MUSK gene and literature review.
Luan X et al.
Clinical Neurology and Neurosurgery, 2016
Select a paper to view details