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Article

Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy.

Brain : a journal of neurology - 1 Mar 2023

Cutrupi Anthony N, Narayanan Ramesh K, Perez-Siles Gonzalo, Grosz Bianca R, Lai Kaitao, Boyling Alexandra, Ellis Melina, Lin Ruby C Y, Neumann Brent, Mao Di, Uesugi Motonari, Nicholson Garth A, Vucic Steve, Saporta Mario A, Kennerson Marina L

Abstract excerpt

Distal hereditary motor neuropathies (dHMNs) are a group of inherited diseases involving the progressive, length-dependent axonal degeneration of the lower motor neurons. There are currently 29 reported causative genes and four disease loci implicated in dHMN. Despite the high genetic heterogeneity, mutations in the known genes account for less than 20% of dHMN cases, with the mutations identified predominantly...

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PMID: 36380488
DOI: 10.1093/brain/awac424
PMCID: PMC9976978

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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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