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

OBJECTIVE: To assess whether exon deletions or duplications in CLCN1 are associated with recessive myotonia congenita (MC). METHODS: We performed detailed clinical and electrophysiologic characterization in 60 patients with phenotypes consistent with MC. DNA sequencing of CLCN1 followed by multiplex...

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Autori principali: Raja Rayan, D.L., Haworth, A., Sud, R., Matthews, E., Fialho, D., Burge, J., Portaro, S., Schorge, S., Tuin, K., Lunt, P., McEntagart, M., Toscano, A., Davis, M.B., Hanna, M.G.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Lippincott Williams & Wilkins 2012
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3369509/
https://ncbi.nlm.nih.gov/pubmed/22649220
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e318259e19c
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