e.g., HRA000087; HRA000150
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HRA007508
Title:
Two adjacent Novel missense mutations homozygously in DYSF gene caused Dysferlinopathy due to splicing abnormalities
Release date:
2024-05-24
Description:
This study reported two homozygous adjacent missense mutations in the DYSF gene, presenting clinically with bilateral lower limb weakness and calf swelling. Two homozygous adjacent missense mutations in the DYSF gene may be associated with the development of Dysferlinopathy, but the exact mechanism needs to be further investigated.
Data Accessibility:   
Open access
BioProject:
PRJCA026235
Study type:
Disease Study
Disease name:
neuromuscular disease
Individuals & samples
Individual Accession
Individual Name
Gender
Sample Accession
Sample Name
Sample Description
Individual Accession
Individual Name
Gender
Sample Accession
Sample Name
Sample Description
HRI974122probandfemaleHRS1260595Human blood1EDTA Anticoagulation
HRI974123maternal grandfathermaleHRS1260596Human blood2EDTA Anticoagulation
HRI974124maternal grandmotherfemaleHRS1260597Human blood3EDTA Anticoagulation
HRI974125sonmaleHRS1260598Human blood4EDTA Anticoagulation
HRI974126daughterfemaleHRS1260599Human blood5EDTA Anticoagulation
Showing 1 to 5 of 5 rows
Files
Run accession
Files
Experiment
Experiment title
Platform
Sample
Run accession
Files
Experiment
Experiment title
Platform
Sample
HRR1782647HRR1782647.fastq.gz (2.25 GB)HRX1438202WES1Illumina NovaSeq 6000HRS1260595 (SAMC3759122)
HRR1782648HRR1782648.ab1 (0.00 GB)HRX1438203WES2AB 3130 Genetic AnalyzerHRS1260596 (SAMC3759123)
HRR1782649HRR1782649.ab1 (0.00 GB)HRX1438204WES3AB 3130 Genetic AnalyzerHRS1260597 (SAMC3759124)
HRR1782650HRR1782650.ab1 (0.00 GB)HRX1438205WES4AB 3130 Genetic AnalyzerHRS1260598 (SAMC3759125)
HRR1782651HRR1782651.ab1 (0.00 GB)HRX1438206WES5AB 3130 Genetic AnalyzerHRS1260599 (SAMC3759126)
Showing 1 to 5 of 5 rows
Submitter:   Huang Hongyao / hhy731120hb@sina.com
Organization:   Suizhou Central Hospital affiliated to Hubei University of Medicine
Submission date:   2024-05-24