The skeletal muscle channelopathies: basic science, clinical genetics and treatment.
The human neurological channelopathies are a rapidly expanding group of mainly genetic conditions that are characterized by dysfunction of membrane-bound glycoproteins (ion channels). The skeletal muscle channelopathies were the first to be characterized in this group. In recent years significant progress has been made in our understanding of the molecular genetic and cellular electrophysiological bases of these disorders. DNA-based diagnosis is now a reality for many of the channelopathies. The advances made have implications for both genetic counselling and for tailoring treatment to specific channelopathies.
Davies
N P
NP
Hanna
M G
MG
D006801:Humans; D007473:Ion Channels / Q000235:genetics*; D018482:Muscle, Skeletal / Q000503:physiopathology*; D009468:Neuromuscular Diseases / Q000235:genetics* / Q000628:therapy*
D007473:Ion Channels