Case report: identification of one frameshift variant and two in cis non-canonical splice variants of NEB gene in prenatal arthrogryposis

NEB mutation is associated with congenital nemaline myopathies. Here, we report a family with recurrent prenatal arthrogryposis. Trio whole exome sequencing (WES) disclosed three novel NEB (NM_001271208.2) variants including one paternal frameshift c.19049_19050delCA (p.Thr6350Argfs*14) and two doub...

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Detalles Bibliográficos
Autores principales: Liu, Yuefang, Xu, Juan, Lv, Qiaoyi, Liang, Zhe, Li, Lingling, Pan, Qiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10512086/
https://www.ncbi.nlm.nih.gov/pubmed/37745844
http://dx.doi.org/10.3389/fgene.2023.1220170

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10512086/
https://www.ncbi.nlm.nih.gov/pubmed/37745844
http://dx.doi.org/10.3389/fgene.2023.1220170

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