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Article

DCTN1-associated neurological disorder with symptoms similar to spinal bulbar muscular atrophy.

Journal of neuromuscular diseases - 1 Nov 2025

Lee Byeonghyeon, Cho Seong Tae, Kim Ryul, Chung Ki Wha, Kwon Tae-Jun, Kim Un-Kyung, Kim Ye-Ri, Choi Byung-Ok, Park Jin-Sung

Abstract excerpt

BackgroundDynactin 1 (DCTN1) mutations are associated with diverse neurological disorders, including distal hereditary motor neuropathy, Perry syndrome, and amyotrophic lateral sclerosis. This study focused on a family with symptoms resembling spinal and bulbar muscular atrophy, showing severe vocal cord paralysis, to understand DCTN1-related neurological disorders in Koreans.MethodClinical examinations revealed...

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Dynactin Complex
Mutation, Missense
Pedigree
Phenotype
Republic of Korea

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Open in PubMed Open full text

Identifiers

PMID: 40665686
DOI: 10.1177/22143602251352989
PMCID: PMC13142846

Genes

DCTN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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