| VOHÁŇKA, Stanislav, Josef BEDNAŘÍK, Daniela PÁCLOVÁ, Jana SEDLÁČKOVÁ and Lenka FAJKUSOVÁ. Congenital Myotonia Caused by Mutations in the CIC-1 Chloride Channel Gene. Ceska a slovenska neurologie a neurochirurgie. 2011, vol. 74, No 4, p. 467-470. ISSN 1210-7859. |
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@article{966031,
author = {Voháňka, Stanislav and Bednařík, Josef and Páclová, Daniela and Sedláčková, Jana and Fajkusová, Lenka},
article_number = {4},
keywords = {myotonia congenita; CLCN1; channelopathy},
language = {eng},
issn = {1210-7859},
journal = {Ceska a slovenska neurologie a neurochirurgie},
title = {Congenital Myotonia Caused by Mutations in the CIC-1 Chloride Channel Gene},
volume = {74},
year = {2011}
}
TY - JOUR
ID - 966031
AU - Voháňka, Stanislav - Bednařík, Josef - Páclová, Daniela - Sedláčková, Jana - Fajkusová, Lenka
PY - 2011
TI - Congenital Myotonia Caused by Mutations in the CIC-1 Chloride Channel Gene
JF - Ceska a slovenska neurologie a neurochirurgie
VL - 74
IS - 4
SP - 467-470
EP - 467-470
SN - 12107859
KW - myotonia congenita
KW - CLCN1
KW - channelopathy
N2 - 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.
ER -
VOHÁŇKA, Stanislav, Josef BEDNAŘÍK, Daniela PÁCLOVÁ, Jana SEDLÁČKOVÁ and Lenka FAJKUSOVÁ. Congenital Myotonia Caused by Mutations in the CIC-1 Chloride Channel Gene. \textit{Ceska a slovenska neurologie a neurochirurgie}. 2011, vol.~74, No~4, p.~467-470. ISSN~1210-7859.
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