Clinical, muscle imaging, and genetic characteristics of dystrophinopathies with deep-intronic DMD variants

Xie, Z., Sun, C., Liu, C., Xie, Z., Wei, L., Yu, J., Ling, C., Guo, X., Liu, Y., Yu, M., Leng, Y., Meng, L., Sun, Y., Deng, J., Leal, S. M., Schrauwen, I., Wang, Z., & Yuan, Y. (2022). Clinical, muscle imaging, and genetic characteristics of dystrophinopathies with deep-intronic DMD variants. Journal of Neurology, 270(2), 925–937. https://doi.org/10.1007/s00415-022-11432-0
Authors:
Zhiying Xie
Chengyue Sun
Chang Liu
Zhihao Xie
Luhua Wei
Jiaxi Yu
Chen Ling
Xuejun Guo
Yilin Liu
Meng Yu
Yinglin Leng
Lingchao Meng
Yunchuang Sun
Jianwen Deng
Suzanne M Leal
Isabelle Schrauwen
Zhaoxia Wang
Yun Yuan
Affiliated Authors:
Suzanne M Leal
Isabelle Schrauwen
Author Keywords:
dystrophinopathies
deep-intronic variants
aberrant splicing
phenotypic heterogeneity
muscle imaging
Publication Type:
Article
Unique ID:
10.1007/s00415-022-11432-0
PMID:
Publication Date:
Data Source:
PubMed

Record Created: