Results 181 to 190 of about 3,216 (202)

[Analysis of CLCN1 gene mutations in a family affected with myotonia congenita].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2018
To detect potential mutations of chloride channel l (CLCN1) gene in a family affected with myotonia congenita.Clinical data of the proband and her parents and brother was collected. The coding regions of the CLCN1 gene were subjected to PCR and Sanger sequencing.Two missense mutations (c.937G>A and c.1205C>T), which were respectively located within ...
Feng, Jing, Haijiang, Li, Dan, Yang, Tao, Chen, Yuexian, Liu, Lidan, Yu   +5 more
openaire   +1 more source

Expanding the clinical spectrum of CLCN1 mutations (P13-13.008)

Neurology, 2022
openaire   +1 more source

Atypical Presentation of CLCN1 Mutations: A Case Series (P2.126)

Neurology, 2017
Anisha Bhangav, Georgios Manousakis
openaire   +1 more source

Sports performance of descendants of CLCN1 gene mutation carrier New Forest Pony Stallions

2015
In 2011, the CLCN1 gene mutation in New Forest Ponies (NF) was discovered by Wijnberg et al. This study tested the hypothesis that NF descending from a CLCN1 gene mutation carrier stallion (MCS) perform better in sports than NF that those not being descendants of the CLCN1 MCS.
Wijnberg, I.D., Dickhoff, Denise
openaire   +1 more source

Gene symbol: CLCN1. Disease: Myotonia congenita.

Human genetics, 2008
Fernando, Morales, Patricia, Cuenca, Gerardo, del Valle, Melissa, Vásquez, Roberto, Brian, Mauricio, Sittenfeld, Keith, Johnson, Xi, Lin, Tetsuo, Ashizawa   +8 more
openaire   +1 more source

41. Novel mutation in the CLCN1 gene causing myotonia congenita (Thomsen’s disease)

Journal of Clinical Neuroscience, 2009
Kishore Kumar, Karl Ng, Himesha Vandebona, Nigel Laing, Carolyn Sue   +4 more
openaire   +1 more source

Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia

European Journal of Human Genetics, 2002
Chen Sun, Marijke Van Ghelue
exaly  

Novel N‐terminal truncating CLCN1 mutation in severe becker disease

Muscle & Nerve, 2014
Franziska Hoche, Kay Seidel, Eduardo Barbosa‐Sicard, Tonio Heidegger, Jun‐Suk Kang, Rainer Koenig, Matthias Kieslich   +6 more
openaire   +1 more source

High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany

Journal of Neurology, 2008
Benedikt Schoser, Hanns Lochmüller
exaly  

In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia

European Journal of Human Genetics, 2008
Jan J G M Verschuuren
exaly