A Repeat Expansion in the Gene Encoding Junctophilin-3 is Associated with Huntington Disease-like 2

Overview

Journal Nat Genet

Specialty Genetics

Date 2001 Nov 6

PMID 11694876

Citations 90

Authors

S E Holmes

E OHearn

A Rosenblatt

C Callahan

H S Hwang

A FLEISHER

G Stevanin

A Brice

N T Potter

C A Ross

R L Margolis

Affiliations

Soon will be listed here.

Abstract

We recently described a disorder termed Huntington disease-like 2 (HDL2) that completely segregates with an unidentified CAG/CTG expansion in a large pedigree (W). We now report the cloning of this expansion and its localization to a variably spliced exon of JPH3 (encoding junctophilin-3), a gene involved in the formation of junctional membrane structures.

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