Novel homozygous nonsense mutation of MLIP and compensatory alternative splicing

Despite the growing accessibility of clinical sequencing, functional interpretation of variants remains a major hurdle to molecular diagnostics of Mendelian diseases. We aimed to describe a new adult-onset myopathy with muscle weakness and hyperCKemia caused by a nonsense variant in muscular LMNA-in...

Descripción completa

Detalles Bibliográficos
Autores principales: Mezreani, Jean, Audet, Sébastien, Martin, Florence, Charbonneau, Jade, Triassi, Valérie, Bareke, Eric, Laplante, Annie, Karamchandani, Jason, Massie, Rami, Chalk, Colin H., O’Ferrall, Erin, Tétreault, Martine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9174206/
https://www.ncbi.nlm.nih.gov/pubmed/35672413
http://dx.doi.org/10.1038/s41525-022-00307-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9174206/
https://www.ncbi.nlm.nih.gov/pubmed/35672413
http://dx.doi.org/10.1038/s41525-022-00307-y

Ejemplares similares