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Article

A common mutation and a novel mutation in Japanese patients with van der Knaap disease.

Journal of human genetics - 1 Jan 2003

Tsujino Seiichi, Kanazawa Naomi, Yoneyama Hitoshi, Shimono Masayuki, Kawakami Akihiro, Hatanaka Yuuki, Shimizu Teruo, Oba Hiroshi

Abstract excerpt

Van der Knaap disease, or megalencephalic leukoencephalopathy with subcortical cysts (MLC), is an autosomal recessive disorder clinically characterized by macrocephaly, ataxia, spasticity, and mental decline. Magnetic resonance imaging (MRI) shows swollen brain with diffuse white-matter abnormalities and subcortical cysts, particularly in the anterior-temporal region. Recently, the MLC1 gene was identified as the...

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Source

Identifiers

PMID: 14615938
DOI: 10.1007/s10038-003-0085-4

Genes

MLC1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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