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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Abstract
To assess whether exon deletions or duplications in CLCN1 are associated with recessive myotonia congenita (MC).
| Type: | Article |
|---|---|
| Title: | A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1. |
| Location: | United States |
| DOI: | 10.1212/WNL.0b013e318259e19c |
| Language: | English |
| 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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