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Abbreviation : MuSK
Long Form : muscle, skeletal, receptor tyrosine kinase
No. Year Title Co-occurring Abbreviation
2020 Congenital Vocal Cord Paralysis and Late-Onset Limb-Girdle Weakness in MuSK-Congenital Myasthenic Syndrome. CK
2020 Disorders of FZ-CRD; insights towards FZ-CRD folding and therapeutic landscape. CMS, ERAD, FEVR, FZ-CRD, FZD4, ROR2, RS
2019 Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum. CMS, VCP
2015 Improved plasma membrane expression of the trafficking defective P344R mutant of muscle, skeletal, receptor tyrosine kinase (MuSK) causing congenital myasthenic syndrome. CMS, ER, ERAD
2015 MuSK: a new target for lethal fetal akinesia deformation sequence (FADS). AChR, CMS, FADS