Читать книгу Neurology - Charles H. Clarke - Страница 86

Mutations of one sodium channel gene can cause either paroxysmal pain or congenital insensitivity to pain. Some potassium channel mutations lead to neuromyotonia. CMT X (an X‐linked hereditary neuropathy) is caused by mutations of connexin32. Connexins make up gap junction proteins.

Channelopathies can cause congenital myasthenic syndromes, periodic paralysis or myotonia. Myotonic dystrophy may have a similar mechanism – DMPK gene mutations alter mRNA processing that encodes the muscle chloride channel.