Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy that affects multiple systems including the muscle and heart. The mutant CTG expansion at the 3′-UTR of the DMPK gene causes the ...

7 Department of Neurology, Queen Elizabeth Hospital, Edgbaston, Birmingham, UK 8 Department of Neurology, King's College Hospital and King's College School of Medicine, London, UK Correspondence to Dr ...

Glycogen storage disease type IV (GSD IV), caused by a mutation in the glycogen branching enzyme 1 (GBE1) gene, is a rare metabolic disorder with an autosomal recessive inheritance that involves the ...