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The study aims to characterize the effect of OPMD mutation on muscle function. Muscle samples will be received from oculopharyngeal muscular dystrophy (OPMD) patients who undergo cricopharyngeal muscle-cutting surgery, as part of their routine healthcare and treatment.
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| Measure | Description | Time Frame |
|---|---|---|
| Number of genes that show changes in RNA profile, measured by sequencing. | RNA profile analysis of OPMD muscle samples will be compared to unaffected muscle samples using sequencing to identify gene numbers. | Data will be collected within four years. |
| Number of genes that show changes in protein profile, measured by SDS page. | Protein profile analysis of OPMD muscle samples will be compared to unaffected muscle samples to identify gene numbers using SDS page. | Data will be collected within four years. |
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Inclusion Criteria:
Exclusion Criteria:
• OPMD patients not referred to the cricopharyngeal muscle-cutting surgery as part of their usual treatment.
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Patients who suffer from oculopharyngeal muscular dystrophy (OPMD).
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Itzhak Braverman, Doctor (MD) | Contact | +972-4-6304549 | +97246304549 | braverman@hy.health.gov.il |
| Name | Affiliation | Role |
|---|---|---|
| Itzhak Braverman, Doctor (MD) | Hillel Yaffe Medical Center, Israel | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hillel Yaffe Medical Center | Recruiting | Hadera | Israel |
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| ID | Term |
|---|---|
| D039141 | Muscular Dystrophy, Oculopharyngeal |
| ID | Term |
|---|---|
| D009136 | Muscular Dystrophies |
| D020966 | Muscular Disorders, Atrophic |
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
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| D009468 | Neuromuscular Diseases |
| D009422 | Nervous System Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |