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F15 Clinical profile of small expansion carriers with 36–38 CAG HTT repeats: a multicentric retrospe...

F15 Clinical profile of small expansion carriers with 36–38 CAG HTT repeats: a multicentric retrospe...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2724372556

F15 Clinical profile of small expansion carriers with 36–38 CAG HTT repeats: a multicentric retrospective study

About this item

Full title

F15 Clinical profile of small expansion carriers with 36–38 CAG HTT repeats: a multicentric retrospective study

Publisher

London: BMJ Publishing Group Ltd

Journal title

Journal of neurology, neurosurgery and psychiatry, 2022-09, Vol.93 (Suppl 1), p.A41-A41

Language

English

Formats

Publication information

Publisher

London: BMJ Publishing Group Ltd

More information

Scope and Contents

Contents

BackgroundHTT alleles with a CAG repeat length of 36-38 are known to be associated with later age of onset and milder disease.AimsDetermine the clinical profile of patients with 36-38 CAG in HTT since existing literature is rare.MethodsWe analyzed 35 individuals (17 presymptomatic and 18 symptomatic) carrying 36-38 CAG repeats in HTT. Eleven patien...

Alternative Titles

Full title

F15 Clinical profile of small expansion carriers with 36–38 CAG HTT repeats: a multicentric retrospective study

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_journals_2724372556

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2724372556

Other Identifiers

ISSN

0022-3050

E-ISSN

1468-330X

DOI

10.1136/jnnp-2022-ehdn.106

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