DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health
Reference11 articles.
1. The muscle protein DOK-7 is essential for neuromuscular synaptogenesis;Okada;Science,2006
2. DOK-7 mutations underlie a neuromuscular junction synaptopathy;Beeson;Science,2006
3. DOK-7 myasthenia: phenotypic and molecular genetic studies in 16 patients;Selcen;Ann Neurol,2008
4. Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes;Müller;Brain,2007
5. Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes;Mihaylova;Brain,2008
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1. DOK7 congenital myasthenic syndrome: case series and review of literature;BMC Neurology;2024-06-21
2. Dose escalation pre-clinical trial of novel DOK7-AAV in mouse model of DOK7 congenital myasthenia;2024-02-12
3. The Meryon Lecture at the 24th annual meeting of the Meryon Society, St. Anne's College, Oxford, UK, 15th July 2022;Neuromuscular Disorders;2023-10
4. Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes—A Comprehensive Review;International Journal of Molecular Sciences;2023-02-13
5. Neonatal and infantile hypotonia;Motor System Disorders, Part I: Normal Physiology and Function and Neuromuscular Disorders;2023
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