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Article

Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy.

Pediatric neurology - 1 Jun 2014

Purnell Shawn M, Bleyl Steven B, Bonkowsky Joshua L

Abstract excerpt

BACKGROUND: Leukodystrophies are a large group of inherited diseases of central nervous system myelin. There are few treatments, and most patients do not receive a final genetic diagnosis. PATIENT: We report a novel presentation of a female child with hypotonia, global developmental delay, and rotatory nystagmus. Brain MRI demonstrated profound hypomyelination and minimal or no atrophy in the brain stem or...

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Identifiers

PMID: 24742798
DOI: 10.1016/j.pediatrneurol.2014.01.051
PMCID: PMC4029864

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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