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Recruiting NCT07138963

Phenotype - Genotype Correlation in a Sample of Egyptian Patients With Congenital Myopathies and Congenital Muscular Dystrophies

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Trial Parameters

Condition Phenotype
Sponsor Ain Shams University
Study Type OBSERVATIONAL
Phase N/A
Enrollment 25
Sex ALL
Min Age 1 Year
Max Age 18 Years
Start Date 2024-06-30
Completion 2026-06-30
Interventions
Genetic Testing and Muscle Biopsy

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Brief 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.

Eligibility Criteria

Inclusion Criteria: * Patients with clinical criteria of Congenital Myopathies (CMs) and Congenital Muscular dystrophies (CMDs) with different modes of inheritance. * Age: patients below age of 18 years. * Gender: Both males and females are included * Genetically confirmed CMs and CMDs. Exclusion Criteria: * Patients above 18 years. * Spinal muscular atrophy (SMA),and root lesions. * Congenital myasthenic syndromes * Dystrophinopathies,Duchenne Muscular Dystrophy (DMD), Limb-Girdle Muscular Dystrophy (LGMD) * .Metabolic myopathies * .Inflammatory muscle diseases

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