A homozygous missense variant in the MLC1 gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: Heterozygous carriers show seizure and mild motor function deterioration-Reference-Cited by-同舟云学术

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A homozygous missense variant in the MLC1 gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: Heterozygous carriers show seizure and mild motor function deterioration

Published:2021-12-17 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Ain ul Batool Syeda¹,Almatrafi Ahmad²,Fadhli Fatima³,Alluqmani Majed⁴,Sadia ¹,Ali Ghazanfar¹^ORCID,Basit Sulman⁵^ORCID

Affiliation:

1. Department of Biotechnology University of Azad Jammu and Kashmir Muzaffarabad Pakistan

2. Department of Biology College of Science, Taibah University Medina Saudi Arabia

3. Department of Genetics Madinah Maternity and Children Hospital Medina Saudi Arabia

4. Department of Neurology College of Medicine, Taibah University Medina Saudi Arabia

5. Center for Genetics and Inherited Diseases Taibah University Medina Medina Saudi Arabia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62614

Reference23 articles.

1. Novel variants causing megalencephalic leukodystrophy in Sudanese families;Amin M.;Journal of Human Genetics,2021

2. MLC1 is associated with the Dystrophin-Glycoprotein Complex at astrocytic endfeet

3. MLC1 protein: a likely link between leukodystrophies and brain channelopathies

4. Structural determinants of interaction, trafficking and function in the ClC-2/MLC1 subunit GlialCAM involved in leukodystrophy

5. Knockdown of MLC1 in primary astrocytes causes cell vacuolation: A MLC disease cell model

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