Title: | Novel SEPN1 Mutations in Exon 1 Are Common in Rigid Spine With Muscular Dystrophy Type 1 in Chinese Patients |
Journal : | Frontiers in Genetics, 13 |
Authors: | 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 |
Material Type: | Article |
Publication Date: | 16/03/2022 |
Languages: | English |
Keywords : | case studies ; children ; China ; congenital muscular dystrophy ; diagnosis ; genetic diagnosis ; genotype-phenotype correlation ; infants ; medical treatment ; rigid spine syndrome ; SELENON gene |
Keywords: | SEPN1 gene;congenital muscular dystrophy with spinal rigidity;respiratory insufficiency;rigid spine with muscular dystrophy type 1;selenoprotein N; |
Pubmed / DOI : | Pubmed : 35368679 / DOI : 10.3389/fgene.2022.825793 |
N° Profil MNM : | 2022041 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/35368679 |