Results 111 to 120 of about 1,941 (150)

Novel insights into neuropathy: The impact of prolonged hyperglycemia on long non-coding RNA expression. [PDF]

PLoS One
Zglejc-Waszak K, Jastrzebski JP, Wojtkiewicz J, Pidsudko Z, Juranek JK.   +4 more
europepmc   +1 more source

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In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay

Molecular Biology Reports, 2014
Mutations in the chloride channel gene CLCN1 cause the allelic disorders Thomsen (dominant) and Becker (recessive) myotonia congenita (MC). The encoded protein, ClC-1, is the primary channel that mediates chloride (Cl-) conductance in skeletal muscle.
Stefania Corti, Nereo Bresolin, Francesca Magri   +2 more
exaly   +3 more sources

Myotonia congenita: Novel mutations in CLCN1 gene and functional characterizations in Italian patients

Journal of the Neurological Sciences, 2012
Myotonia congenita is an autosomal dominantly or recessively inherited muscle disorder causing impaired muscle relaxation and variable degrees of permanent muscle weakness, abnormal currents linked to the chloride channel gene (CLCN1) encoding the chloride channel on skeletal muscle membrane.
Stefania Corti, Giovanni Meola, Nereo Bresolin   +2 more
exaly   +4 more sources

Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene

Neuromuscular Disorders, 2012
Myotonia congenita is an inherited muscle disorder caused by mutations in the CLCN1 gene, a voltage-gated chloride channel of skeletal muscle. We have studied 48 families with myotonia, 32 out of them carrying mutations in CLCN1 gene and eight carry mutations in SCN4A gene.
Adela Escudero Lopez, FRANCISCO Barros, Pilar De La Peña Cortines   +2 more
exaly   +3 more sources

Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene

Clinical Genetics, 2011
Myotonia is characterized by hyperexcitability of the muscle cell membrane. Myotonic disorders are divided into two main categories: non-dystrophic and dystrophic myotonias. The non-dystrophic myotonias involve solely the muscle system, whereas the dystrophic myotonias are characterized by multisystem involvement and additional muscle weakness.
Sun, C, Van Ghelue, M, Tranebjaerg, L, Thyssen, F, Nilssen, O, Torbergsen, T   +5 more
exaly   +4 more sources

Coexistence of DMPK gene expansion and CLCN1 missense mutation in the same patient

Neurogenetics, 2014
, Margherita Milone, Milone Margherita
exaly   +2 more sources

A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes

Journal of the Neurological Sciences, 2016
Non-dystrophic myotonias are caused by mutations of either the skeletal muscle chloride (CLCN1) or sodium channel (SCN4A) gene. They exhibit several distinct phenotypes, including myotonia congenita, paramyotonia congenita and sodium channel myotonia, and a genotype-phenotype correlation has been established.
Hideki, Kato, Yosuke, Kokunai, Carine, Dalle, Tomoya, Kubota, Yuta, Madokoro, Hiroyuki, Yuasa, Yuto, Uchida, Tomomasa, Ikeda, Hideki, Mochizuki, Sophie, Nicole, Bertrand, Fontaine, Masanori P, Takahashi, Shigehisa, Mitake   +12 more
openaire   +2 more sources

The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen’s and Becker’s myotonias

Russian Journal of Genetics, 2012
Thomsen's and Becker's diseases are the most prevalent nondystrophic myotonias. Their frequency varies, according to different sources, from 1 : 100 000 to 1 : 10 000. Thomsen's myotonia is autosomal dominant, and Becker's myotonia is autosomal recessive.
E A, Ivanova, E L, Dadali, V P, Fedotov, S A, Kurbatov, G E, Rudenskaia, T N, Proskokova, A V, Poliakov   +6 more
openaire   +2 more sources

Identification of novel mutations of theCLCN1gene for myotonia congenital in China

Neurological Research, 2016
The identification of disease-specific genetic and electrophysiological patterns for myotonia congenital (MC) could help clinicians apply in the findings of genetic studies to improve diagnosis. We examined the molecular, clinical, and histopathological characteristics of eight patients with MC.Optimization PCR was used to exclude myotonic dystrophies ...
Yan-Xin, Meng, Zhe, Zhao, Hong-Rui, Shen, Qi, Bing, Jing, Hu   +4 more
openaire   +2 more sources