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Article

Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations.

Human molecular genetics - 1 May 1997

Wollnik B, Kubisch C, Steinmeyer K, Pusch M

Abstract excerpt

Mutations in the muscular voltage-dependent Cl-channel, CIC-1, lead to recessive and dominant myotonia. Here we analyse the effects of one dominant (G200R) and three recessive (Y150C, Y261C, and M485V) mutations after functional expression in Xenopus oocytes. Glycine 200 is a highly conserved amino acid located in a conserved stretch in the putatively cytoplasmic loop between domains D2 and D3. Similar to several...

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Identifiers

PMID: 9158157
DOI: 10.1093/hmg/6.5.805

Genes

CIC

Variants

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations.PMID 9158157Read ↗

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