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Literature DB >> 7874130

Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita.

A L George¹, K Sloan-Brown, G M Fenichel, G A Mitchell, R Spiegel, R M Pascuzzi.

Abstract

Entities: Disease Gene Mutation Species

Mesh：

Substances：
Chloride Channels

Year: 1994 PMID： 7874130

Source DB: PubMed Journal: Hum Mol Genet ISSN： 0964-6906 Impact factor: 6.150

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Cited

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25 in total

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

Authors: D L Raja Rayan; A Haworth; R Sud; E Matthews; D Fialho; J Burge; S Portaro; S Schorge; K Tuin; P Lunt; M McEntagart; A Toscano; M B Davis; M G Hanna
Journal: Neurology Date: 2012-05-30 Impact factor: 9.910

2. Functional complementation of truncated human skeletal-muscle chloride channel (hClC-1) using carboxyl tail fragments.

Authors: Weiping Wu; Grigori Y Rychkov; Bernard P Hughes; Allan H Bretag
Journal: Biochem J Date: 2006-04-01 Impact factor: 3.857

Review 3. ClC transporters: discoveries and challenges in defining the mechanisms underlying function and regulation of ClC-5.

Authors: Leigh Wellhauser; Christina D'Antonio; Christine E Bear
Journal: Pflugers Arch Date: 2010-01-05 Impact factor: 3.657

4. In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay.

Authors: Gianna Ulzi; Valeria A Sansone; Francesca Magri; Stefania Corti; Nereo Bresolin; Giacomo P Comi; Sabrina Lucchiari
Journal: Mol Biol Rep Date: 2014-01-23 Impact factor: 2.316

5. Molecular basis for decreased muscle chloride conductance in the myotonic goat.

Authors: C L Beck; C Fahlke; A L George
Journal: Proc Natl Acad Sci U S A Date: 1996-10-01 Impact factor: 11.205

6. Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature.

Authors: Xinglong Yang; Hua Jia; Ran An; Jing Xi; Yanming Xu
Journal: Channels (Austin) Date: 2016-07-14 Impact factor: 2.581

Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita.

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

2. Functional complementation of truncated human skeletal-muscle chloride channel (hClC-1) using carboxyl tail fragments.

Review 3. ClC transporters: discoveries and challenges in defining the mechanisms underlying function and regulation of ClC-5.

4. In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay.

5. Molecular basis for decreased muscle chloride conductance in the myotonic goat.

6. Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature.

7. Nondystrophic myotonia: challenges and future directions.

Review 8. Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias.

9. Novel muscle chloride channel mutations and their effects on heterozygous carriers.

10. Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.