Article
A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1.
Neurology - 12 Jun 2012
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
Abstract excerpt
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 ligation-dependent probe amplification to screen for exon copy number variation was undertaken in all patients....
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