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
Pregnancy-associated respiratory failure in muscle specific kinase congenital myasthenic syndrome.
Wadwekar V et al.
Muscle & Nerve, 2019
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
A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions.
Chevessier F et al.
Human Molecular Genetics, 2008
[Pathophysiological characterization of congenital myasthenic syndromes: the example of mutations in the MUSK gene].
Chevessier F et al.
Journal De La Societe De Biologie, 2005
MUSK, a new target for mutations causing congenital myasthenic syndrome.
Chevessier F et al.
Human Molecular Genetics, 2004
Select a paper to view details