Integrated Genome and Transcriptome Sequencing to Solve a Neuromuscular Puzzle: Miyoshi Muscular Dystrophy and Early Onset Primary Dystonia in Siblings of the Same Family

BACKGROUND: Neuromuscular disorders (NMD), many of which are hereditary, affect muscular function. Due to advances in high-throughput sequencing technologies, the diagnosis of hereditary NMDs has dramatically improved in recent years. METHODS AND RESULTS: In this study, we report an family with two...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhu, Feng, Zhang, Fengxiao, Hu, Lizhi, Liu, Haowen, Li, Yahua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8283672/
https://www.ncbi.nlm.nih.gov/pubmed/34276779
http://dx.doi.org/10.3389/fgene.2021.672906

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8283672/
https://www.ncbi.nlm.nih.gov/pubmed/34276779
http://dx.doi.org/10.3389/fgene.2021.672906

Ejemplares similares