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A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1.

Raja Rayan, DL; Haworth, A; Sud, R; Matthews, E; Fialho, D; Burge, J; Portaro, S; Schorge, S; Tuin, K; Lunt, P; et al. Raja Rayan, DL; Haworth, A; Sud, R; Matthews, E; Fialho, D; Burge, J; Portaro, S; Schorge, S; Tuin, K; Lunt, P; McEntagart, M; Toscano, A; Davis, MB; Hanna, MG (2012) A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1. Neurology, 78 (24). 1953 - 1958. https://doi.org/10.1212/WNL.0b013e318259e19c
SGUL Authors: McEntagart, Meriel

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Abstract

To assess whether exon deletions or duplications in CLCN1 are associated with recessive myotonia congenita (MC).

Item Type: Article
Additional Information: PMCID: PMC3369509
Keywords: Adolescent, Adult, Base Sequence, Chloride Channels, DNA Copy Number Variations, Exons, Female, Genetic Testing, Genotype, Humans, Male, Myotonia Congenita, Sequence Deletion
SGUL Research Institute / Research Centre: Academic Structure > Molecular and Clinical Sciences Research Institute (MCS)
Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) > Cell Sciences (INCCCS)
Journal or Publication Title: Neurology
Dates:
DateEvent
12 June 2012Published
PubMed ID: 22649220
Web of Science ID: 22649220
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URI: https://openaccess.sgul.ac.uk/id/eprint/101650
Publisher's version: https://doi.org/10.1212/WNL.0b013e318259e19c

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