CAG/CTG repeat expansions at the Huntington’s disease–like 2 locus are rare in Huntington’s disease patients
Copyright policy )CAG/CTG repeat expansions at the Huntington’s disease–like 2 locus are rare in Huntington’s disease patients
The authors report a large series of patients with Huntington disease (HD)-like phenotype without CAG repeat expansions in the IT15 gene that were screened for the newly identified CAG/CTG expansion in the gene encoding junctophilin-3. Normal alleles in controls had from 8 to 28 repeats. A single patient of North African origin with typical HD carried an allele with 50 uninterrupted repeats, representing approximately 2% of the non-IT15 HD patients tested. Therefore, further genetic heterogeneity is expected in HD.
Adult, Male, Adolescent, Brain, Infant, Membrane Proteins, Middle Aged, Huntington Disease, Child, Preschool, Humans, Female, Child, Trinucleotide Repeat Expansion, Alleles, Aged
Adult, Male, Adolescent, Brain, Infant, Membrane Proteins, Middle Aged, Huntington Disease, Child, Preschool, Humans, Female, Child, Trinucleotide Repeat Expansion, Alleles, Aged
citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).48 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Top 10% influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Top 10% impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Top 10%
Citations provided by BIP!Popularity provided by BIP!