References in periodicals archive ?
Family flowers only, but donations gratefully received towards the Dystrophia Myotonica in Wales.
Polymerase chain reaction was used to analyze the lengths of triplet repeat tracts, also known as microsatellites, for three alleles associated with neurodegenerative disease: spinocerebral ataxia type 1 (SCA1), spinocerebral ataxia type 2 (SCA2), and dystrophia myotonica.
Paddy Doyle suffers from a condition called generalised dystrophia which causes severe spasms and constant shaking.
19) have demonstrated that paternally inherited disease-causing expansions of the dystrophia myotonica protein kinase (DMPK) gene can be detected from maternal plasma.
It is caused by a genetic defect in the dystrophia myotonica-protein kinase (DMPK) gene in which a sequence of three nucleotides repeats extensively, creating an abnormally long toxic RNA, which accumulates in the cell and prevents the production of proteins needed for normal cellular function.
DM1 is a rare genetic neuromuscular disease caused by the production of toxic dystrophia myotonica-protein kinase (DMPK) RNA in cells.