TY  - GEN
AU  - Mazón,María J
AU  - Barros,Francisco
AU  - De la Peña,Pilar
AU  - Quesada,Juan F
AU  - Escudero,Adela
AU  - Cobo,Ana M
AU  - Pascual-Pascual,Samuel I
AU  - Gutiérrez-Rivas,Eduardo
AU  - Guillén,Encarna
AU  - Arpa,Javier
AU  - Eraso,Pilar
AU  - Portillo,Francisco
AU  - Molano,Jesús
TI  - Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene
SN  - 1873-2364
PY  - 2012///0709
KW  - Adolescent
KW  - Adult
KW  - Biophysical Phenomena
KW  - genetics
KW  - Biophysics
KW  - Cell Line, Transformed
KW  - Child
KW  - Chloride Channels
KW  - Electric Stimulation
KW  - Electromyography
KW  - Family Health
KW  - Female
KW  - Genetic Testing
KW  - methods
KW  - Humans
KW  - Male
KW  - Membrane Potentials
KW  - Middle Aged
KW  - Mutagenesis, Site-Directed
KW  - Mutation
KW  - Myotonia
KW  - diagnosis
KW  - Patch-Clamp Techniques
KW  - Spain
KW  - Transfection
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.nmd.2011.10.013
ER  -