Literature DB >> 7951215

A recurrent 14 bp deletion in the CLCN1 gene associated with generalized myotonia (Becker).

C Meyer-Kleine1, K Ricker, M Otto, M C Koch.   

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Year:  1994        PMID： 7951215     DOI： 10.1093/hmg/3.6.1015

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


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  5 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

Review 2.  Properties of voltage-gated chloride channels of the ClC gene family.

Authors:  T J Jentsch; W Günther; M Pusch; B Schwappach
Journal:  J Physiol       Date:  1995-01       Impact factor: 5.182

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

Authors:  V Mailänder; R Heine; F Deymeer; F Lehmann-Horn
Journal:  Am J Hum Genet       Date:  1996-02       Impact factor: 11.025

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

Authors:  C Meyer-Kleine; K Steinmeyer; K Ricker; T J Jentsch; M C Koch
Journal:  Am J Hum Genet       Date:  1995-12       Impact factor: 11.025

5.  Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports.

Authors:  Amanda Amrita Lakraj; Geoffrey Miller; Alexander O Vortmeyer; Babar Khokhar; Richard J Nowak; Daniel B DiCapua
Journal:  Yale J Biol Med       Date:  2013-03-12
  5 in total

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