Heterozygous GGC repeat expansion of <i>NOTCH2NLC</i> in a patient with neuronal intranuclear inclusion disease and progressive retinal dystrophy
Takaaki Hayashi, Satoshi Katagiri, Kei Mizobuchi, Kazutoshi Yoshitake, Shuhei Kameya, Tomokazu Matsuura, Takeshi Iwata, Tadashi Nakano
Abstract
Neuronal intranuclear inclusion disease (NIID, OMIM #603472) is an autosomal dominant, slowly progressive neurodegenerative disease, characterized by a variable range of clinical manifestations, in...
Topics & Concepts
DiseaseRetinalMedicinePathologyTrinucleotide repeat expansionInclusion bodiesDystrophyRetinal degenerationNeuroscienceBiologyGeneticsOphthalmologyAlleleGeneEscherichia coliGenetic Neurodegenerative DiseasesMitochondrial Function and PathologyRNA regulation and disease