Novel mutations in B3GALNT2 gene causing α-dystroglycanopathy in Chinese patients

Chin Med J (Engl). 2020 Dec 7;134(12):1483-1485. doi: 10.1097/CM9.0000000000001283.

Authors

Xiao-Yu Chen¹, Dan-Yu Song¹, Yan-Bin Fan¹, Dan-Dan Tan¹, Xing-Zhi Chang¹, Jiang-Xi Xiao², Tatsushi Toda³, Hui Xiong¹

Affiliations

¹ Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
² Department of Medical Imaging, Peking University First Hospital, Beijing 100034, China.
³ Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo 113-8655, Japan.

No abstract available

Publication types

Case Reports

MeSH terms

Asian People* / genetics
China
Female
Humans
Infant
Muscular Dystrophies / genetics*
Mutation / genetics
N-Acetylgalactosaminyltransferases* / genetics

Substances

B3GALNT2 protein, human
N-Acetylgalactosaminyltransferases