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

ABSTRACT:

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.

Results

Exon deletions or duplications in CLCN1 were identified in 6% of patients with MC. Half had heterozygous exonic rearrangements. The other 2 patients (50%), with severe disabling infantile onset myotonia, were identified with both a homozygous mutation, Pro744Thr, which functional electrophysiology studies suggested was nonpathogenic, and a triplication/homo

SUBMITTER: Raja Rayan DL 

PROVIDER: S-EPMC3369509 | biostudies-literature | 2012 Jun

REPOSITORIES: biostudies-literature