A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with necklace fibres
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health
Reference19 articles.
1. Centronuclear myopathies: a widening concept;Romero;Neuromuscul Disord,2010
2. Mutations in dynamin 2 cause dominant centronuclear myopathy;Bitoun;Nat Genet,2005
3. Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset;Bitoun;Ann Neurol,2007
4. A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation;Bitoun;Neurology,2009
5. Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy;Nicot;Nat Genet,2007
Cited by 14 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Dynamins in human diseases: differential requirement of dynamin activity in distinct tissues;Current Opinion in Cell Biology;2023-04
2. Differential impact of ubiquitous and muscle dynamin 2 isoforms in muscle physiology and centronuclear myopathy;Nature Communications;2022-11-11
3. Centronuclear Myopathy Caused by Defective Membrane Remodelling of Dynamin 2 and BIN1 Variants;International Journal of Molecular Sciences;2022-06-03
4. Benefits of therapy by dynamin-2-mutant-specific silencing are maintained with time in a mouse model of dominant centronuclear myopathy;Molecular Therapy - Nucleic Acids;2022-03
5. Imaging‐based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy;Human Mutation;2021-12-19
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