Have had it for the last 15 years undiagnosed but recently, genetic testing that had been 'lost' has now been analysed 10 years later and picked up a gene mutation (SCN4A c.2015G>A p.Arg672His ...

Genetic testing is important for diagnosing periodic paralyses by discovering a mutation in genes like SCN4A, KCNJ2, and CACNA1S. The emergence of low-cost next-generation sequencing (NGS) methods ...

Exertional rhabdomyolysis is characterised by muscle breakdown associated with strenuous exercise or normal exercise under extreme circumstances. Key features are severe muscle pain and sudden ...