Literature DB >> 9040760

Inheritance of three distinct muscle chloride channel gene (CLCN1) mutations in a single recessive myotonia congenita family.

K Sloan Brown1, A L George.   

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Year:  1997        PMID： 9040760     DOI： 10.1212/wnl.48.2.542

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  3 in total

1.  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

2.  Moroccan consanguineous family with Becker myotonia and review.

Authors:  Ilham Ratbi; Siham Chafai Elalaoui; Adela Escudero; Yamina Kriouile; Jesus Molano; Abdelaziz Sefiani
Journal:  Ann Indian Acad Neurol       Date:  2011-10       Impact factor: 1.383

3.  Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations.

Authors:  Katharina Ronstedt; Damien Sternberg; Silvia Detro-Dassen; Thomas Gramkow; Birgit Begemann; Toni Becher; Petra Kilian; Matthias Grieschat; Jan-Philipp Machtens; Günther Schmalzing; Martin Fischer; Christoph Fahlke
Journal:  Sci Rep       Date:  2015-10-27       Impact factor: 4.379
  3 in total

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