Extraocular muscle hypertrophy in myotonia congenita: Mutation identified in the SCN4A gene (V445M).
Wakeman
Bradley
B
MacDonald
Ian M
IM
Ginjaar
Ieke
I
Tarleton
Jack
J
Babu
Deepti
D
D006801:Humans; D020125:Mutation, Missense; D009224:Myotonia Congenita / Q000235:genetics* / Q000473:pathology*; D062553:NAV1.4 Voltage-Gated Sodium Channel; D009801:Oculomotor Muscles / Q000473:pathology*; D015222:Sodium Channels / Q000235:genetics*
D062553:NAV1.4 Voltage-Gated Sodium Channel; C106251:SCN4A protein, human; D015222:Sodium Channels