Exome sequencing identifies a novel pathogenic CLCN1 mutation in an Iranian family with Myotonia Congenita: A case report

Author:

Salmani Hamzeh,Nasirshalal Mahzad,Zendehbad Zahra,Komachali Sajad Rafiee

Funder

University of Sistan and Baluchestan

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference19 articles.

1. Pathomechanisms of a CLCN1 mutation found in a Russian family suffering from Becker’s Myotonia;Altamura;Front. Neurol.,2020

2. Gene expression analysis in myotonic dystrophy: indications for a common molecular pathogenic pathway in DM1 and DM2;Botta;Gene Expr.,2007

3. A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene;Brugnoni;J. Hum. Genet.,2013

4. A novel mutation in the CLCN1 gene causing autosomal recessive myotonia congenita in siblings;Chakravarty;Ann. Indian Acad. Neurol.,2021

5. Targeted next generation sequencing in patients with Myotonia Congenita;Ferradini;Clin. Chim. Acta,2017

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