Phenotype - Genotype Correlation in a Sample of Egyptian Patients With Congenital Myopathies and Congenital Muscular Dystrophies
NCT07138963 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 25
Last updated 2025-08-24
Summary
The aim of this study is to correlate the phenotype and genotype among a sample of Egyptian patients with Congenital myopathies and Congenital muscular dystrophies.
Conditions
- Phenotype
- Genotype
- Correction
- Sample
- Egyptian Patients
- Congenital Myopathies
- Congenital Muscular Dystrophies
Interventions
- DIAGNOSTIC_TEST
-
Genetic Testing and Muscle Biopsy
Comprehensive diagnostic assessment including clinical examination, electromyography (EMG), muscle biopsy for histopathological evaluation, and genetic testing to determine phenotype-genotype correlation in congenital myopathies and muscular dystrophies.
Sponsors & Collaborators
-
Ain Shams University
lead OTHER
Eligibility
- Min Age
- 1 Year
- Max Age
- 18 Years
- Sex
- ALL
- Healthy Volunteers
- Yes
Timeline & Regulatory
- Start
- 2024-06-30
- Primary Completion
- 2026-06-30
- Completion
- 2026-06-30
Countries
- Egypt
Study Locations
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