Diagnostics in skeletal muscle channelopathies.
Alex VicinoRaffaella BrugnoniLorenzo MaggiPublished in: Expert review of molecular diagnostics (2023)
The diagnostic approach to SMC is still mainly based on clinical data; moreover, definite diagnosis is sometimes complicated by the difficulty to establish a proper genotype-phenotype correlation. Lastly, further studies are needed to allow the genetic characterization in unsolved patients.