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

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

BackgroundNeuromuscular 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 ResultsIn this study, we report an family with two sibli...

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Bibliographic Details
Main Authors: Feng Zhu, Fengxiao Zhang, Lizhi Hu, Haowen Liu, Yahua Li
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-07-01
Series:Frontiers in Genetics
Subjects:
Miyoshi muscular dystrophy
dysferlin
deep intron mutation
compound heterozygous mutations
dystonia
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.672906/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2021.672906/full

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