Results 111 to 120 of about 10,373 (189)

Myotonia Congenita [PDF]

Proceedings of the Royal Society of Medicine, 1951
openaire   +2 more sources

Thomsen and Myotonia Congenita [PDF]

Medical History, 1968
openaire   +2 more sources

Ion channels gene expression analysis in myotonia congenita patients carrying ClC-1 chloride channel mutations

, 2015
Mtotonia congenita is caharcetrized by impaired relaxation after contraction, resulting in muscle stiffness. Here we report the functional study new missense mutations found in patients with recessive myotonia ...
Conte Camerino D., Musumeci O., DESAPHY, Jean Francois, IMBRICI, Paola, Portaro S., Toscano A., CAMERINO, GIULIA MARIA, Altamura C.   +7 more
core  

Myotonia Congenita [PDF]

Military Medicine, 1945
Edward J. Denenholz, Morris Blum
openaire   +1 more source

High-dose flecainide for symptomatic relief in paramyotonia congenita/severe neonatal episodic laryngospasm due to SCN4A G1306E: a case report

Journal of Medical Case Reports
Background Severe neonatal episodic laryngospasm has been previously reported in multiple patients with the heterozygous pathogenic variant G1306E in SCN4A.
Vanessa Ogueri, Jessica Chong, Melissa Fleming, Kara Simpson, Elizabeth Sherwin, Diana Bharucha-Goebel, Christopher Spurney   +6 more
doaj   +1 more source

Myotonia Congenita [PDF]

Proceedings of the Royal Society of Medicine, 1926
Redvers N. Ironside, F. M. E. Walshe
openaire   +1 more source

Case of Myotonia Congenita [PDF]

Proceedings of the Royal Society of Medicine, 1923
openaire   +2 more sources

Natural ClC-1 mutations causing myotonia congenita reduce sensitivity to 9-AC

, 2015
By whole-cell patch, we tested the sensitivity to 9-AC applied from the outside of myotonia congenita mutant ClC-1 channels experssed in HEK ...
Conte Camerino D., DESAPHY, Jean Francois, IMBRICI, Paola, Toscano A., Mantegazza R., Altamura C.   +5 more
core  

Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance

, 1998
Autosomal-dominant and -recessive myotonia congenita are caused by mutations in the skeletal muscle voltage-gated chloride channel gene (CLCN1). We searched for mutations in this gene in 20 unrelated families with myotonia congenita.
Jentsch, T.J., Plassart-Schiess, E., Pouget, J., Eymard, B., Gervais, A., Warter, J.M., Fontaine, B., Lagueny, A., Fardeau, M.   +8 more
core  

Autosomal Recessive Becker's Form of Myotonia Congenita in Indian Families. [PDF]

Cureus
Krovvidi S, Nelakurthi S, Gedela M, Singamsetty S, Bhimireddy V.   +4 more
europepmc   +1 more source