Molecular Genetics Study of a Thai Family with Chronic Progressive External Ophthalmoplegia with Optic Atrophy
Not Applicable
Recruiting
- Conditions
- A family presented withchronic progressive external ophthalmoplegia and disc atrophyAutosomal dominance like inheritance patternlate onsetCPEODisc atrophymitochondrial disease
- Registration Number
- TCTR20201129001
- Lead Sponsor
- Faculty of Medicine Siriraj Hospital, Mahidol University
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- All
- Target Recruitment
- 10
Inclusion Criteria
Study of a family
8 family members who have chronic progressive external ophthalmoplegia and disc atrophy
2 family member who have no sign and symptom
Exclusion Criteria
Deny to involve in the study
Study & Design
- Study Type
- Observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Mutation Varients 1 year Whole genome sequencing analysis
- Secondary Outcome Measures
Name Time Method none none none