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HRA002619
   HRA002619.xlsx
Title:
CGG Repeat Expansion in 5' UTR of RILPL1 Is Associated with A New Subtype of Oculopharyngodistal Myopathy
Release date:
2022-07-04
Description:
Oculopharyngodistal myopathy (OPDM) is an autosomal dominant adult-onset degenerative muscle disorder characterized by ptosis, ophthalmoplegia and weakness of the facial, pharyngeal and limb muscles. Trinucleotide repeat expansions in non-coding regions of LRP12, G1PC1 and NOTCH2NLC were recently reported to be the etiologies for OPDM. However, a significant portion of OPDM patients still have unknown genetic causes. In this study, we performed long-read whole-genome sequencing in a large five-generation family of 156 individuals, including 21 patients diagnosed with typical OPDM.
Data Accessibility:   
Controlled access Request Data
BioProject:
PRJCA010379
Study type:
Disease Study
Disease name:
oculopharyngeal muscular dystrophy
Data Access Committee

For each controlled access study, there is a corresponding Data Access Committee(DAC) to determine the access permissions. Access to actual data files is not managed by NGDC.


DAC NO.:
HDAC000390
DAC name:
DMD disease DAC
Contact person:
Dai Yi
Email:
pumchdy@pumch.cn
Description:
Duchenne and Becker muscular dystrophy DAC, Department of Neurology, Peking Union Medical College Hospital
Individuals & samples
Files
Request Data
Submitter:   Dai Yi / pumchdy@pumch.cn
Organization:   Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College
Submission date:   2022-07-04
Requests:   -