A novel ANO5 splicing variant in a LGMD2L patient leads to production of a truncated aggregation‐prone Ano5 peptide

Mutations in ANO5 cause several human diseases including gnathodiaphyseal dysplasia 1 (GDD1), limb‐girdle muscular dystrophy 2L (LGMD2L), and Miyoshi myopathy 3 (MMD3). Previous work showed that complete genetic disruption of Ano5 in mice did not recapitulate human muscular dystrophy, while residual...

Descripción completa

Detalles Bibliográficos
Autores principales: Xu, Jing, Xu, Li, Lau, Yeh S, Gao, Yandi, Moore, Steven A, Han, Renzhi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5903698/
https://www.ncbi.nlm.nih.gov/pubmed/29665321
http://dx.doi.org/10.1002/cjp2.92

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5903698/
https://www.ncbi.nlm.nih.gov/pubmed/29665321
http://dx.doi.org/10.1002/cjp2.92

Ejemplares similares