Читать книгу Neurology - Charles H. Clarke - Страница 92

In skeletal muscle, dimeric ClC‐2 channels have an important role in setting the resting membrane potential. They activate further upon depolarisation. Loss‐of‐function mutations destabilise the membrane potential and predispose to repetitive discharges. Both dominantly inherited and recessive mutations occur – Thomsen and Becker myotonia.

Ligand‐gated ion channels mediate fast neurotransmission. Many mutations have been identified.