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Article

A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease.

Brain & development - 1 Mar 2015

Shimojima Keiko, Okumura Akihisa, Ikeno Mitsuru, Nishimura Akira, Saito Akira, Saitsu Hirotomo, Matsumoto Naomichi, Yamamoto Toshiyuki

Abstract excerpt

OBJECTIVE: Hypomyelinating leukoencephalopathy is a heterogeneous disorder caused by mutations in several-different genes. Clinical entity of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is one of them. METHOD: A male patient showed pendular nystagmus, infantile hypotonia, an abnormal pattern of brain auditory evoked potential, and hypomyelination on brain magnetic resonance imaging,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24974158
DOI: 10.1016/j.braindev.2014.05.004

Genes

PLP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease.PMID 24974158Read ↗

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