2002
DOI: 10.1093/brain/awf246
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Novel CLCN1 mutations with unique clinical and electrophysiological consequences

Abstract: Myotonia is a condition characterized by impaired relaxation of muscle following sudden forceful contraction. We systematically screened all 23 exons of the CLCN1 gene in 88 unrelated patients with myotonia and identified mutations in 14 patients. Six novel mutations were discovered: five were missense (S132C, L283F, T310M, F428S and T550M) found in heterozygous patients, and one was a nonsense mutation (E193X) in a homozygous patient. While five patients had a clinical diagnosis of myotonia congenita, the pat… Show more

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Cited by 82 publications
(92 citation statements)
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“…Early truncating (i.e., nonsense) mutations are thought to exhibit AR inheritance due to loss of the ability of allelic gene products to produce heterodimers [4][5][6] .…”
Section: Letter To the Editormentioning
confidence: 99%
“…Early truncating (i.e., nonsense) mutations are thought to exhibit AR inheritance due to loss of the ability of allelic gene products to produce heterodimers [4][5][6] .…”
Section: Letter To the Editormentioning
confidence: 99%
“…To test whether the expression of heterodimeric concatamers supports the formation of homodimers by such a mechanism, we inserted a naturally occurring, disease-causing point mutation, S132C (28), in one of the two subunits. S132C modifies gating properties of ClC-1 in homodimeric S132C hClC-1 and in heterodimeric WT-S132C hClC-1 channels in a different way (Fig.…”
Section: C-g)mentioning
confidence: 99%
“…Others mainly performed in vitro studies for the confirmation of novel mutations in one of these genes. 36,42,43 In the future, such studies should also be done for the eight novel missense mutations detected in our study.…”
mentioning
confidence: 93%