Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case report

BACKGROUND: Spinal muscular atrophy (SMA) is a rare neuromuscular disorder threating hundreds of thousands of lives worldwide. And the severity of SMA differs among different clinical types, which has been demonstrated to be modified by factors like SMN2, SERF1, NAIP, GTF2H2 and PLS3. However, the s...

Descripción completa

Detalles Bibliográficos
Autores principales: Jiang, Jianping, Huang, Jinwei, Gu, Jianlei, Cai, Xiaoshu, Zhao, Hongyu, Lu, Hui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6938020/
https://www.ncbi.nlm.nih.gov/pubmed/31888525
http://dx.doi.org/10.1186/s12881-019-0935-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6938020/
https://www.ncbi.nlm.nih.gov/pubmed/31888525
http://dx.doi.org/10.1186/s12881-019-0935-3

Ejemplares similares