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Article

Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3.

Journal of neurology - 1 Feb 2024

de Fuenmayor-Fernández de la Hoz Carlos Pablo, Lupo Vincenzo, Bermejo-Guerrero Laura, Martín-Jiménez Paloma, Hernández-Laín Aurelio, Olivé Montse, Gallardo Eduard, Esteban-Pérez Jesús, Espinós Carmen, Domínguez-González Cristina

Abstract excerpt

OBJECTIVE: To describe a new phenotype associated with a novel variant in BAG3: autosomal dominant adult-onset distal hereditary motor neuronopathy. METHODS: This study enrolled eight affected individuals from a single family and included a comprehensive evaluation of the clinical phenotype, neurophysiologic testing, muscle MRI, muscle biopsy and western blot of BAG3 protein in skeletal muscle. Genetic workup...

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Identifiers

PMID: 37907725
DOI: 10.1007/s00415-023-12039-9

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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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