DAC NO.: HDAC000495
DAC name: Miyoshi muscular dystrophy
Contact person: Li Yahua
URL: https://onlinelibrary.wiley.com/doi/10.1111/1759-7714.13678
Description: Using integrated genome and transcriptome sequencing, we discovered hereditary MMD and EOPD affecting two siblings of same family. Our results added further weight to the combined use of RNA-seq and WGS as an important method for detection of deep intronic gene mutations, and suggest that integrated sequencing assays are an effective strategy for the diagnosis of hereditary NMDs.
