The identification of a novel splicing mutation in the DMD gene of a Chinese family

The identification of a novel splicing mutation in the DMD gene of a Chinese family

Abstract The proband is a five‐year‐old boy diagnosed with Duchenne muscular dystrophy (DMD) by clinical manifestations and laboratory examination, but clinical phenotype of his parents is normal. In the study, his mother had a second pregnancy, and they went to obstetrics for genetic counseling to...

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Bibliographic Details
Main Authors: Wanlu Liu, Xinwei Shi, Yuqi Li, Fuyuan Qiao, Yuanyuan Wu
Format: Article
Language:English
Published: Wiley 2021-12-01
Series:Clinical Case Reports
Subjects:
c.2293‐1G>C
DMD gene
minigene
splicing mutation
Online Access:https://doi.org/10.1002/ccr3.5166

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