scholarly journals A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene

2013 ◽  
Vol 58 (9) ◽  
pp. 581-587 ◽  
Author(s):  
Raffaella Brugnoni ◽  
Dimos Kapetis ◽  
Paola Imbrici ◽  
Mauro Pessia ◽  
Eleonora Canioni ◽  
...  
Keyword(s):  
High Frequency ◽  
Large Cohort ◽  
Novel Mutations ◽  
Myotonia Congenita ◽  
Clcn1 Gene ◽  
Mutation Region

scholarly journals Myotonia congenita: novel mutations in CLCN1 gene

Channels ◽  
2015 ◽  
Vol 9 (5) ◽  
pp. 292-298 ◽  
Author(s):  
Xiao-Li Liu ◽  
Xiao-Jun Huang ◽  
Jun-Yi Shen ◽  
Hai-Yan Zhou ◽  
Xing-Hua Luan ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Myotonia Congenita ◽  
Clcn1 Gene

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

2012 ◽  
Vol 318 (1-2) ◽  
pp. 65-71 ◽  
Author(s):  
Gianna Ulzi ◽  
Marzia Lecchi ◽  
Valeria Sansone ◽  
Elisa Redaelli ◽  
Eleonora Corti ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Myotonia Congenita ◽  
Clcn1 Gene

A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene

Neurology ◽  
2000 ◽  
Vol 55 (11) ◽  
pp. 1697-1703 ◽  
Author(s):  
S. Nagamitsu ◽  
T. Matsuura ◽  
M. Khajavi ◽  
R. Armstrong ◽  
C. Gooch ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Novel Mutations ◽  
Myotonia Congenita ◽  
Clcn1 Gene

Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families

1999 ◽  
Vol 246 (9) ◽  
pp. 825-829 ◽  
Author(s):  
C. de Diego ◽  
J. Gámez ◽  
E. Plassart-Schiess ◽  
A. Lasa ◽  
E. Del Río ◽  
...  
Keyword(s):  
Chloride Channel ◽  
Novel Mutations ◽  
Myotonia Congenita ◽  
Clcn1 Gene

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

2021 ◽  
Author(s):  
Lucas Santos Souza ◽  
Priscila Calyjur ◽  
Antonio Fernando Ribeiro ◽  
Juliana Gurgel-Giannetti ◽  
Rita Cassia Mingroni Pavanello ◽  
...  
Keyword(s):  
Consanguineous Family ◽  
Myotonia Congenita ◽  
Clcn1 Gene

High frequency ofJAK2exon 12 mutations in Korean patients with polycythaemia vera: novel mutations and clinical significance

2016 ◽  
Vol 69 (8) ◽  
pp. 737-741 ◽  
Author(s):  
Chang-Hun Park ◽  
Ki-O Lee ◽  
Jun-Ho Jang ◽  
Chul Won Jung ◽  
Jong-Won Kim ◽  
...  
Keyword(s):  
Clinical Significance ◽  
High Frequency ◽  
Polycythaemia Vera ◽  
Novel Mutations ◽  
Korean Patients

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

2009 ◽  
Vol 16 (11) ◽  
pp. 1539
Author(s):  
Kishore Kumar ◽  
Karl Ng ◽  
Himesha Vandebona ◽  
Nigel Laing ◽  
Carolyn Sue
Keyword(s):  
Novel Mutation ◽  
Myotonia Congenita ◽  
Clcn1 Gene ◽  
Thomsen's Disease ◽  
Thomsen’S Disease

scholarly journals Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita

1999 ◽  
Vol 14 (5) ◽  
pp. 447-447 ◽  
Author(s):  
Raffaella Brugnoni ◽  
Stefania Galantini ◽  
Paolo Confalonieri ◽  
Maria Rosa Balestrini ◽  
Ferdinando Cornelio ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Chloride Channel ◽  
Human Skeletal Muscle ◽  
Novel Mutations ◽  
Myotonia Congenita ◽  
Channel Gene

G.P.14.08 Analysis of the CLCN1 gene in Czech patients with myotonia congenita

2009 ◽  
Vol 19 (8-9) ◽  
pp. 645
Author(s):  
J. Sedlackova ◽  
S. Vohanka ◽  
M. Hermanova ◽  
P. Vondracek ◽  
L. Fajkusova
Keyword(s):  
Myotonia Congenita ◽  
Clcn1 Gene
Sign in / Sign up

Export Citation Format

Share Document