The Importance of Combining Multiple Genetic Techniques to Define Recessive Forms of Myotonia Congenita

Raffaella Brugnoni,Anna Modoni, Paola Imbrici, Eleonora Canioni, Savina Tincheva, Albena Todorova,Mauro Lo Monaco,Lorenzo Maggi

Discover Medicine（2024）

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Key words

Recessive myotonia congenita,CLCN1 gene,NGS,MLPA

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