Literature DB >> 24920213

Novel N-terminal truncating CLCN1 mutation in severe Becker disease.

Franziska Hoche1, Kay Seidel, Eduardo Barbosa-Sicard, Tonio Heidegger, Jun-Suk Kang, Rainer Koenig, Matthias Kieslich.   

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Year:  2014        PMID： 24920213     DOI： 10.1002/mus.24312

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN： 0148-639X            Impact factor:   3.217


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  3 in total

1.  Myotonia congenita: novel mutations in CLCN1 gene.

Authors:  Xiao-Li Liu; Xiao-Jun Huang; Jun-Yi Shen; Hai-Yan Zhou; Xing-Hua Luan; Tian Wang; Sheng-Di Chen; Ying Wang; Hui-Dong Tang; Li Cao
Journal:  Channels (Austin)       Date:  2015-08-11       Impact factor: 2.581

2.  Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita.

Authors:  Lucas Santos Souza; Priscila Calyjur; Antonio Fernando Ribeiro; Juliana Gurgel-Giannetti; Rita Cassia Mingroni Pavanello; Mayana Zatz; Mariz Vainzof
Journal:  J Mol Neurosci       Date:  2021-01-19       Impact factor: 3.444

3.  Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis.

Authors:  Serena Pagliarani; Giovanni Meola; Melania Filareti; Giacomo Pietro Comi; Sabrina Lucchiari
Journal:  Front Neurol       Date:  2022-08-23       Impact factor: 4.086
  3 in total

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