trinucleotide repeat expansion disease

Pathology

• in myotonic dystrophy (1 & 2), MBNL3 colocalizes with nuclear foci of retained expanded-repeat transcripts

More general terms

• genetic disease

More specific terms

• fragile X syndrome
• Friedreich ataxia
• myotonic dystrophy; Steinert disease; myotonia dystrophica
• neuronal intranuclear inclusion disease (NIID)
• polyalanine expansion disorder
• polyglutamine expansion disorder