Centronuclear myopathy due to a de novo nonsense variant and a maternally inherited splice‐site variant in TTN: A case report

Next‐generation sequencing has resulted in an explosion of rare de novo TTN variants. The clinical interpretation of these de novo variants in patients with recessive titinopathy is very difficult. Here, we provided a useful way to identify compound heterozygous mutations with a de novo one.

Detalles Bibliográficos
Autores principales: Huang, Sheng, Ma, Yinan, Zhang, Yu, Xiong, Hui, Chang, Xingzhi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8283857/
https://www.ncbi.nlm.nih.gov/pubmed/34295493
http://dx.doi.org/10.1002/ccr3.4478

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8283857/
https://www.ncbi.nlm.nih.gov/pubmed/34295493
http://dx.doi.org/10.1002/ccr3.4478

Ejemplares similares