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Article

Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia.

Movement disorders : official journal of the Movement Disorder Society - 1 Jan 2026

Sorrentino Ugo, Pavlov Martin, Mirza-Schreiber Nazanin, Brugger Melanie, Brunet Theresa, Tsoma Eugenia, Saparov Alice, Dzinovic Ivana, Harrer Philip, Stehr Antonia M, Wagner Matias, Tilch Erik, Wallacher Barbara, Alhasan Shiraz, Koy Anne, Di Fonzo Alessio, Kolnikova Miriam, Kusikova Katarina, Havrankova Petra, Tautanova Raushana, Lösecke Sandy, Eck Sebastian, Boesch Sylvia, Necpal Jan, Skorvanek Matej, Jech Robert, Prokisch Holger, Winkelmann Juliane, Oexle Konrad, Graf Elisabeth, Zech Michael

Abstract excerpt

BACKGROUND: Although many individuals with dystonia present with features indicative of single-gene etiologies, obtaining definitive genetic diagnoses can be challenging. OBJECTIVE: We assessed the value of nanopore-based long-read sequencing (LRS) in achieving molecular clarification of dystonic syndromes. METHODS: From a large dystonia cohort with short-read sequencing (SRS) data, 14 cases with unclear,...

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Identifiers

PMID: 41028987
DOI: 10.1002/mds.70072
PMCID: PMC12882031

Genes

FMR1
KMT2B
SGCE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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