Detailed Information on Publication Record
2011
Congenital Myotonia Caused by Mutations in the CIC-1 Chloride Channel Gene
VOHÁŇKA, Stanislav, Josef BEDNAŘÍK, Daniela PÁCLOVÁ, Jana SEDLÁČKOVÁ, Lenka FAJKUSOVÁ et. al.Basic information
Original name
Congenital Myotonia Caused by Mutations in the CIC-1 Chloride Channel Gene
Authors
VOHÁŇKA, Stanislav (203 Czech Republic, belonging to the institution), Josef BEDNAŘÍK (203 Czech Republic, belonging to the institution), Daniela PÁCLOVÁ (203 Czech Republic), Jana SEDLÁČKOVÁ (203 Czech Republic) and Lenka FAJKUSOVÁ (203 Czech Republic, guarantor)
Edition
Ceska a slovenska neurologie a neurochirurgie, 2011, 1210-7859
Other information
Language
English
Type of outcome
Článek v odborném periodiku
Field of Study
Genetics and molecular biology
Country of publisher
Czech Republic
Confidentiality degree
není předmětem státního či obchodního tajemství
Impact factor
Impact factor: 0.279
RIV identification code
RIV/00216224:14740/11:00054890
Organization unit
Central European Institute of Technology
UT WoS
000294035900010
Keywords in English
myotonia congenita; CLCN1; channelopathy
Tags
International impact, Reviewed
Změněno: 31/7/2013 13:35, Olga Křížová
Abstract
V originále
Congenital myotonia is caused by mutations in the CLCN1 chloride channel gene. It can be inherited as either an autosomal dominant (Thomsen's myotonia) or a recessive (Becker's myotonia) trait.All the cases but one are sporadic, thus the majority of patients in our population have Becker's form of myotonia congenita.
Links
| MSM0021622415, plan (intention) |
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