SCN4A mutation as modifying factor of myotonic dystrophy type 2 phenotype.
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Translational approach to address therapy in myotonia permanens due to a new SCN4A mutationReport on the 3rd Ottawa International Conference on Neuromuscular Biology, Disease and Therapy - September 24-26, 2015, Ottawa, Canada.Myotonic Dystrophy Type 2: An Update on Clinical Aspects, Genetic and Pathomolecular Mechanism.Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects.Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach.Increased HCN channel driven inward rectification in benign cramp fasciculation syndrome.Assessing the influence of age and gender on the phenotype of myotonic dystrophy type 2.Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia.Core Clinical Phenotypes in Myotonic Dystrophies.SCN4A as modifier gene in patients with myotonic dystrophy type 2
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SCN4A mutation as modifying factor of myotonic dystrophy type 2 phenotype.
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name
SCN4A mutation as modifying factor of myotonic dystrophy type 2 phenotype.
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SCN4A mutation as modifying factor of myotonic dystrophy type 2 phenotype.
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SCN4A mutation as modifying factor of myotonic dystrophy type 2 phenotype.
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P2093
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SCN4A mutation as modifying factor of myotonic dystrophy type 2 phenotype.
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A Soriano Caminero
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10.1016/J.NMD.2015.01.006
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2015-01-21T00:00:00Z