Novel SEPN1 Mutations in Exon 1 Are Common in Rigid Spine With Muscular Dystrophy Type 1 in Chinese Patients.
Fan Y, Xu Z, Li X, Gao F, Guo E, Chang X, Wei C, Zhang C, Yu Q, Que C, Xiao J, Yan C, Wang Z, Yuan Y, Xiong H.
Fan Y, et al.
Front Genet. 2022 Mar 16;13:825793. doi: 10.3389/fgene.2022.825793. eCollection 2022.
Front Genet. 2022.
PMID: 35368679
Free PMC article.
All patients could walk independently, though with poor running and jumping, and most had a rigid spine, lordosis, or scoliosis. The symptoms of respiratory involvement were present early, and upper respiratory tract infections and pneumonia often occurred. ...
All patients could walk independently, though with poor running and jumping, and most had a rigid spine, lordosis, or scoliosis. The …