Raja Rayan, DL and Haworth, A and Sud, R and Matthews, E and Fialho, D and Burge, J and Portaro, S and Schorge, S and Tuin, K and Lunt, P and McEntagart, M and Toscano, A and Davis, MB and Hanna, MG (2012) A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1. Neurology , 78 (24) 1953 - 1958. 10.1212/WNL.0b013e318259e19c.
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To assess whether exon deletions or duplications in CLCN1 are associated with recessive myotonia congenita (MC).
|Title:||A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1.|
|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|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology > Clinical and Experimental Epilepsy|
UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology > Molecular Neuroscience
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