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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.
Ain Ul Batool, Syeda; Almatrafi, Ahmad; Fadhli, Fatima; Alluqmani, Majed; Ali, Ghazanfar; Basit, Sulman.
Affiliation
  • Ain Ul Batool S; Department of Biotechnology, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan.
  • Almatrafi A; Department of Biology, College of Science, Taibah University, Medina, Saudi Arabia.
  • Fadhli F; Department of Genetics, Madinah Maternity and Children Hospital, Medina, Saudi Arabia.
  • Alluqmani M; Department of Neurology, College of Medicine, Taibah University Medina, Saudi Arabia.
  • Sadia; Department of Biotechnology, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan.
  • Ali G; Department of Biotechnology, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan.
  • Basit S; Center for Genetics and Inherited Diseases, Taibah University Medina, Medina, Saudi Arabia.
Am J Med Genet A ; 188(4): 1075-1082, 2022 04.
Article in En | MEDLINE | ID: mdl-34918859
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hereditary Central Nervous System Demyelinating Diseases / Megalencephaly Limits: Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Affiliation country: Pakistán Country of publication: Estados Unidos
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hereditary Central Nervous System Demyelinating Diseases / Megalencephaly Limits: Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Affiliation country: Pakistán Country of publication: Estados Unidos