✦ LIBER ✦

Myotonia caused by mutations in the muscle chloride channel gene CLCN1

✍ Scribed by Michael Pusch

Book ID: 102258597
Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 473 KB
Volume: 19
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.10063

No coin nor oath required. For personal study only.

✦ Synopsis

Communicated by Lap-Chee Tsui

📜 SIMILAR VOLUMES

Identification of three novel mutations

Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita

✍ Raffaella Brugnoni; Stefania Galantini; Paolo Confalonieri; Maria Rosa Balestrin 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 100 KB 👁 3 views

## Myotonia congenita (MC) is a genetic disease characterized by mutations in the CLCN1 gene (OMIM\*118425) encoding the skeletal muscle voltage-gated chloride channel (ClC-1). Autosomal dominant and recessive forms are observed, characterized by impaired muscle relaxation after forceful contractio

Characterization of three myotonia-assoc

Characterization of three myotonia-associated mutations of the CLCN1 chloride channel gene via heterologous expression

✍ Bronwyn J. Simpson; Tamara A. Height; Grigori Y. Rychkov; Kristen J. Nowak; Nige 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 190 KB

Two novel mutations of the human CLCN1 chloride channel gene, c.592C>G (p.L198V) and c.2255A>G (p.K752R), are described, occurring coincidentally in the one myotonic patient. These individual mutations and a construct with both mutations in the one cDNA were transcribed and expressed in Xenopus oocy

Novel mutations in the muscle chloride c

Novel mutations in the muscle chloride channelCLCN1gene causing myotonia congenita in Spanish families

✍ C. de Diego; J. Gámez; E. Plassart-Schiess; A. Lasa; E. Del Río; C. Cervera; M. 📂 Article 📅 1999 🏛 Springer 🌐 English ⚖ 120 KB

Identification of five new mutations and

Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita

✍ F Sangiuolo; A Botta; A Mesoraca; S Servidei; L Merlini; G Fratta; G Novelli; B 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 143 KB 👁 2 views

Autosomal dominant myotonia congenita or Thomsen's disease (OMIM\* 160800) and autosomal recessive myotonia congenita or Becker's (OMIM\* 255700) are rare nondystrophic disorders due to allelic mutations of the muscle chloride channel gene, CLCN1. We have analysed all 24 exons of the CLCN1 gene, in

Myotonia congenita in a large consanguin

Myotonia congenita in a large consanguineous Arab family: Insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene

✍ Adel Shalata; Haya Furman; Vardit Adir; Noam Adir; Yasir Hujeirat; Stavit A. Sha 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 394 KB

Mutations in the chloride channel gene,

Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III

✍ Simon, David B.; Bindra, Ranjit S.; Mansfield, Traci A.; Nelson-Williams, Carol; 📂 Article 📅 1997 🏛 Nature Publishing Group 🌐 English ⚖ 925 KB