A novel missense mutation in the ABCD1 gene of a Chinese boy diagnosed with X-linked adrenoleukodystrophy: case report

Neurol Sci. 2019 May;40(5):1093-1096. doi: 10.1007/s10072-018-3596-7. Epub 2018 Oct 20.

Authors

Mengqi Zhang^#¹, Shupeng Shi^#^{1

2}, Haoran Zhang^{1

2}, Lihui Liu¹, Linchao Wu¹, Bo Xiao¹, Weiping Liu³

Affiliations

¹ Department of Neurology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, 410008, China.
² Xiangya School of Medicine, Central South University, Changsha, 410008, China.
³ Department of Neurology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, 410008, China. Aliu1220@163.com.

^# Contributed equally.

PMID: 30343438
DOI: 10.1007/s10072-018-3596-7

No abstract available

Publication types

Case Reports

MeSH terms

ATP Binding Cassette Transporter, Subfamily D, Member 1 / genetics*
Adolescent
Adrenoleukodystrophy / diagnosis*
Adrenoleukodystrophy / genetics*
Adrenoleukodystrophy / physiopathology
Asian People / genetics
Brain / diagnostic imaging
Brain / physiopathology
Diagnosis, Differential
Evoked Potentials, Visual
Humans
Male
Mutation, Missense*

Substances

ABCD1 protein, human
ATP Binding Cassette Transporter, Subfamily D, Member 1