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Article

A novel variant in DYNC1H1 could contribute to human amyotrophic lateral sclerosis-frontotemporal dementia spectrum.

Cold Spring Harbor molecular case studies - 1 Feb 2022

Mentis Alexios-Fotios A, Vlachakis Dimitrios, Papakonstantinou Eleni, Zaganas Ioannis, Patrinos George P, Chrousos George P, Dardiotis Efthimios

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) belongs to the ALS-frontotemporal dementia (FTD) spectrum and is hallmarked by upper and lower motor neuron degeneration. Here, we present a patient with a cytoplasmic dynein 1 heavy chain 1 (DYNC1H1) pathogenic variant who fulfilled the ALS El Escorial criteria, and we review relevant literature. Using whole-exome sequencing, we identified a deleterious point variant in...

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Identifiers

PMID: 34535505
DOI: 10.1101/mcs.a006096
PMCID: PMC8958913

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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