An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies
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DOI: 10.3389/fneur.2019.01404
Abstract: Myotonic disorders are inherited neuromuscular diseases divided into dystrophic myotonias and non-dystrophic myotonias (NDM). The latter is a group of dominant or recessive diseases caused by mutations in genes encoding ion channels that participate in… read more here.
Keywords: genotype phenotype; phenotype relationships; myotonic channelopathies; date overview ... See more keywords