VOHÁŇKA, Stanislav, Josef BEDNAŘÍK, Daniela PÁCLOVÁ, Jana SEDLÁČKOVÁ a Lenka FAJKUSOVÁ. Congenital Myotonia Caused by Mutations in the CIC-1 Chloride Channel Gene. Ceska a slovenska neurologie a neurochirurgie. 2011, roč. 74, č. 4, s. 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 a Lenka FAJKUSOVÁ. Congenital Myotonia Caused by Mutations in the CIC-1 Chloride Channel Gene. \textit{Ceska a slovenska neurologie a neurochirurgie}. 2011, roč.~74, č.~4, s.~467-470. ISSN~1210-7859.
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