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Identification of Novel Mutations Confirms Pde4d as a Major Gene Causing Acrodysostosis

✍ Scribed by Lynch, Danielle C.; Dyment, David A.; Huang, Lijia; Nikkel, Sarah M.; Lacombe, Didier; Campeau, Philippe M.; Lee, Brendan; Bacino, Carlos A.; Michaud, Jacques L.; Bernier, Francois P.; Consortium, FORGE Canada; Parboosingh, Jillian S.; Innes, A. Micheil


Book ID
118759312
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
296 KB
Volume
34
Category
Article
ISSN
1059-7794

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## Myotonia congenita (MC) is a genetic disease characterized by mutations in the CLCN1 gene (OMIM\*118425) encoding the skeletal muscle voltage-gated chloride channel (ClC-1). Autosomal dominant and recessive forms are observed, characterized by impaired muscle relaxation after forceful contractio