A common mutation and a novel mutation in Japanese patients with van der Knaap disease-Reference-Cited by-同舟云学术

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

Published:2003-11-13 Issue:12 Volume:48 Page:605-608
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

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

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg2003111.pdf

Reference8 articles.

1. Ben-Zeev B, Gross V, Kushnir T, Shalev R, Hoffman C, Shinar Y, Pras E, Brand N (2001) Vacuolating megalencephalic leukoencephalopathy in 12 Israeli patients. J Child Neurol 16:93–99

2. Leegwater PAJ, Yuan BQ, van der Steen J, Mulders J, Könst AAM, Ilja Boor PK, Mejaski-Bosnjak V, van der Maarel SM, Frants RR, Oudejans CBM, Schutgens RBH, Pronk JC, van der Knaap MS (2001) Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts. Am J Hum Genet 68:831–838

3. Saijo H, Nakayama H, Ezoe T, Araki K, Sone S, Hamaguchi H, Suzuki H, Shiroma N, Kanazawa N, Tsujino S, Hirayama Y, Arima M (2003) A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study. Brain Dev 25:362–366

4. Topçu M, Saatci I, Topcuoglu MA, Kose G, Kunake B (1998) Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases. Brain Dev 20:142–153

5. Topçu M, Gartioux C, Ribierre F, Yalçinkaya C, Tokus E, Oztekin N, Beckmann JS, Ozguc M, Seboun E (2000) Vacuoliting megalencephalic leukoencephalopathy with subcortical cysts, mapped to chromosome 22qtel. Am J Hum Genet 66:733–739

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1. Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature;Frontiers in Genetics;2024-02-29

2. Homozygous variant of MLC1 results in megalencephalic leukoencephalopathy with subcortical cysts;Molecular Genetics & Genomic Medicine;2024-02

3. Leucodistrofia megalencefálica con quistes subcorticales: la importancia del diagnóstico temprano;Boletín Médico del Hospital Infantil de México;2022-04-21

4. Bipolar disorder in megalencephalic leukoencephalopathy with subcortical cysts: a case report;BMC Psychiatry;2020-07-03

5. A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22;Annals of Laboratory Medicine;2017-11-01

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