Associated Papers
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Theuriet J et al.
Brain : a Journal of Neurology, 2024
38696726 (PubMed )
Supplement: awae124_supplementary_data.pdf
Homozygosity of a Founder Variant c.1508dupC in DOK7 Causes Congenital Myasthenia With Variable Severity.
Palmio J et al.
Neurology. Genetics, 2024
Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature.
Tiwari AK et al.
Clinical Genetics, 2024
Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies.
Muñoz-García MI et al.
Journal of Clinical Medicine, 2023
When Breathing Becomes a Challenge: A Case of Congenital Myasthenia Gravis in an Indian Neonate With a DOK-7 Gene Mutation.
Mendpara V et al.
Cureus, 2023
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf
A late-onset congenital myasthenic syndrome due to a heterozygous DOK7 mutation.
Bastos P et al.
Neuromuscular Disorders : Nmd, 2020
Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes.
Azuma Y et al.
Neurology. Genetics, 2017
The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
Cossins J et al.
Human Molecular Genetics, 2012
Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia.
Liewluck T et al.
Muscle & Nerve, 2011
Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome.
Jephson CG et al.
International Journal of Pediatric Otorhinolaryngology, 2010
Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.
Ben Ammar A et al.
Journal of Neurology, 2010
Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients.
Selcen D et al.
Annals of Neurology, 2008
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
Müller JS et al.
Brain : a Journal of Neurology, 2007
Dok-7 mutations underlie a neuromuscular junction synaptopathy.
Beeson D et al.
Science (new York, N.y.), 2006
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