[Non-dystrophic myotonias. Diagnostic approach in a case related with a mutation in the sodium-channel gene].
Cristina
C
Domínguez-González
Eduardo
E
de Pablo-Fernández
Juan Francisco
JF
Gonzalo-Martínez
Alberto
A
García-Redondo
Pilar
P
Cordero-Vázquez
Jesús
J
Esteban-Pérez
Eduardo
E
Gutiérrez-Rivas
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