[Non-dystrophic myotonias. Diagnostic approach in a case related with a mutation in the sodium-channel gene].
Domínguez-González
Cristina
C
de Pablo-Fernández
Eduardo
E
Gonzalo-Martínez
Juan Francisco
JF
García-Redondo
Alberto
A
Cordero-Vázquez
Pilar
P
Esteban-Pérez
Jesús
J
Gutiérrez-Rivas
Eduardo
E
D000328:Adult; D006801:Humans; D008297:Male; D009154:Mutation; D020967:Myotonic Disorders / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics*; D062553:NAV1.4 Voltage-Gated Sodium Channel; D015222:Sodium Channels / Q000235:genetics*; D013577:Syndrome
D062553:NAV1.4 Voltage-Gated Sodium Channel; C106251:SCN4A protein, human; D015222:Sodium Channels