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trinucleotide repeat expansion disease
Pathology:
- in myotonic dystrophy (1 & 2), MBNL3 colocalizes with nuclear foci of retained expanded-repeat transcripts
Specific
fragile X syndrome
Friedreich ataxia
myotonic dystrophy; Steinert disease; myotonia dystrophica
neuronal intranuclear inclusion disease (NIID)
polyalanine expansion disorder
polyglutamine expansion disorder
General
genetic disease