Article
CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients.
Neurology - 26 Mar 2002
Stevanin G, Camuzat A, Holmes S E, Julien C, Sahloul R, Dodé C, Hahn-Barma V, Ross C A, Margolis R L, Durr A, Brice A
Abstract excerpt
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...
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