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Article

TUBB4A de novo mutations cause isolated hypomyelination.

Neurology - 2 Sept 2014

Pizzino Amy, Pierson Tyler Mark, Guo Yiran, Helman Guy, Fortini Sebastian, Guerrero Kether, Saitta Sulagna, Murphy Jennifer Louise Patrick, Padiath Quasar, Xie Yi, Hakonarson Hakon, Xu Xun, Funari Tara, Fox Michelle, Taft Ryan J, van der Knaap Marjo S, Bernard Geneviève, Schiffmann Raphael, Simons Cas, Vanderver Adeline

Abstract excerpt

OBJECTIVE: We present a series of unrelated patients with isolated hypomyelination, with or without mild cerebellar atrophy, and de novo TUBB4A mutations. METHODS: Patients in 2 large institutional review board-approved leukodystrophy bioregistries at Children's National Medical Center and Montreal Children's Hospital with similar MRI features had whole-exome sequencing performed. MRIs and clinical information...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25085639
DOI: 10.1212/WNL.0000000000000754
PMCID: PMC4153852

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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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