Associated Papers
The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt.
Cocanougher BT et al.
Hgg Advances, 2024
Congenital myasthenic syndrome from a MUSK gene mutation.
McLean A et al.
Practical Neurology, 2024
Case Report: Congenital Myasthenic Syndrome Presenting with Bilateral Vocal Cord Paralysis Caused by De-Novel Compound Heterozygous MUSK Mutation.
Jiang L et al.
Pharmacogenomics and Personalized Medicine, 2023
Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?
Bourgon N et al.
European Journal of Human Genetics : Ejhg, 2022
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
Lefebvre M et al.
Journal of Medical Genetics, 2021
Congenital myasthenia syndrome in a Chinese family with mutations in MUSK: A hotspot mutation and literature review.
Liu Y et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2020
Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure.
Rodríguez Cruz PM et al.
Human Mutation, 2020
Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
Salfati EL et al.
Genome Medicine, 2019
31847883 (PubMed )
Supplement: 13073_2019_702_MOESM1_ESM.xlsx › Table_S3A
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Pregnancy-associated respiratory failure in muscle specific kinase congenital myasthenic syndrome.
Wadwekar V et al.
Muscle & Nerve, 2019
Dissecting the Extracellular Complexity of Neuromuscular Junction Organizers.
Guarino SR et al.
Frontiers in Molecular Biosciences, 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
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
A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations.
Giarrana ML et al.
Muscle & Nerve, 2015
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