Associated Papers
The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt.
Cocanougher BT et al.
Hgg Advances, 2024
Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum.
Murali C et al.
American Journal of Medical Genetics. Part A, 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
Exploring Missense Mutations in Tyrosine Kinases Implicated with Neurodegeneration.
Sami N et al.
Molecular Neurobiology, 2017
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
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
Tan-Sindhunata MB et al.
European Journal of Human Genetics : Ejhg, 2015
Improved plasma membrane expression of the trafficking defective P344R mutant of muscle, skeletal, receptor tyrosine kinase (MuSK) causing congenital myasthenic syndrome.
Milhem RM et al.
The International Journal of Biochemistry & Cell Biology, 2015
Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.
Gallenmüller C et al.
Neuromuscular Disorders : Nmd, 2014
Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK.
Maggi L et al.
Journal of Neurology, 2013
A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.
Ben Ammar A et al.
Plos One, 2013
Congenital myasthenic syndromes.
Eymard B et al.
Handbook of Clinical Neurology, 2013
Development of an efficient method for genotyping at the gd locus in NC/Sgn mice based on PCR-RFLP analysis.
Suto J
The Journal of Veterinary Medical Science, 2012
Congenital myasthenic syndromes in 2012.
Engel AG
Current Neurology and Neuroscience Reports, 2012
Current status of the congenital myasthenic syndromes.
Engel AG
Neuromuscular Disorders : Nmd, 2012
[Genetic defects and disorders at the neuromuscular junction].
Ohno K
Brain and Nerve = Shinkei Kenkyu No Shinpo, 2011
Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.
Maselli RA et al.
Human Molecular Genetics, 2010
Dok-7/MuSK signaling and a congenital myasthenic syndrome.
Yamanashi Y et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2008