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Article

A hexanucleotide repeat modifies expressivity of X‐linked dystonia parkinsonism

12 Apr 2019

Abstract excerpt

OBJECTIVE: repeat within the SVA insertion has been reported as an age-at-onset (AAO) modifier in XDP. Here we investigate the role of this hexanucleotide repeat in modifying expressivity of XDP. METHODS: We genotyped the hexanucleotide repeat in 355 XDP patients and correlated the repeat number (RN) with AAO (n = 295), initial clinical manifestation (n = 294), site of dystonia onset (n = 238), disease severity...

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PMID: 30973967
DOI: 10.1002/ana.25488

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