Associated Papers
Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature.
Tiwari AK et al.
Clinical Genetics, 2024
Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence.
Radhakrishnan P et al.
American Journal of Medical Genetics. Part A, 2020
The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
Cossins J et al.
Human Molecular Genetics, 2012
Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: a review.
Chen CP
Taiwanese Journal of Obstetrics & Gynecology, 2012
Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes.
Müller JS et al.
Human Molecular Genetics, 2010
Germline mutation in DOK7 associated with fetal akinesia deformation sequence.
Vogt J et al.
Journal of Medical Genetics, 2009
Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients.
Selcen D et al.
Annals of Neurology, 2008
[A hypotonic patient wit hypokalemic periodic paralysis and myopathic pathology associated with nucleolysis].
Oho Y et al.
No to Hattatsu = Brain and Development, 1987
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