A novel compound heterozygous mutation in AARS2 gene (c.965 G > A, p.R322H; c.334 G > C, p.G112R) identified in a Chinese patient with leukodystrophy involved in brain and spinal cord.

Song, Chengyuan; Peng, Linliu; Wang, Shengjun; Liu, Yiming

Song, Chengyuan; Peng, Linliu; Wang, Shengjun; Liu, Yiming.

Affiliation

Song C; Department of Neurology, Qilu hospital of Shandong University, Jinan, China. dcschengyuan@163.com.
Peng L; Department of Neurology, Qilu hospital of Shandong University, Jinan, China.
Wang S; Department of Neurology, Qilu hospital of Shandong University, Jinan, China.
Liu Y; Department of Neurology, Qilu hospital of Shandong University, Jinan, China.

J Hum Genet ; 64(10): 979-983, 2019 Oct.

Article in En | MEDLINE | ID: mdl-31388113

Subject(s)

Alanine-tRNA Ligase/genetics; Brain/diagnostic imaging; Hereditary Central Nervous System Demyelinating Diseases/genetics; Leukoencephalopathies/genetics; Spinal Cord Diseases/genetics; Spinal Cord/diagnostic imaging; Alleles; Brain/metabolism; Cardiomyopathies/blood; Cardiomyopathies/genetics; China; Hereditary Central Nervous System Demyelinating Diseases/blood; Hereditary Central Nervous System Demyelinating Diseases/diagnostic imaging; Heterozygote; Humans; Leukoencephalopathies/diagnostic imaging; Magnetic Resonance Imaging; Male; Mutation; Pedigree; Spinal Cord Diseases/diagnostic imaging; Exome Sequencing; Young Adult

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spinal Cord / Spinal Cord Diseases / Brain / Hereditary Central Nervous System Demyelinating Diseases / Alanine-tRNA Ligase / Leukoencephalopathies Type of study: Prognostic_studies Limits: Adult / Humans / Male Country/Region as subject: Asia Language: En Journal: J Hum Genet Year: 2019 Document type: Article

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