Article

Missense variants in<i>TUBA4A</i>cause myo-tubulinopathies

2025-06-28

Abstract excerpt

Tubulinopathies encompass a wide spectrum of disorders resulting from variants in genes encoding α- and β-tubulins, the key components of microtubules. While previous studies have linked de novo or dominantly inherited TUBA4A missense variants to neurodegenerative phenotypes, including amyotrophic lateral sclerosis, frontotemporal dementia, hereditary spastic ataxia, and more recently, an isolated report of congen...

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Literature Corpus work: 6811ce9c-b3f5-50e1-a6a6-478038fa2a4a
DOI: 10.1101/2025.06.26.25330266

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