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A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry. (2024)

First Author: Cortese A

Attributed to: The AAGGG repeat expansion in RFC1 associated with late-onset ataxia and sensory neuropathy: from genetic cause to defining the functional mechanism funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1038/s41467-024-49950-2

PubMed Identifier: 39068203

Publication URI: http://europepmc.org/abstract/MED/39068203

Type: Journal Article/Review

Volume: 15

Parent Publication: Nature communications

Issue: 1

ISSN: 2041-1723