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

Recruitingn/aAges 1 Year - 18 YearsAllAin Shams University
NCT07138963 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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.

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📋 Eligibility rules (as published)
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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What it tests

  • Genetic Testing and Muscle Biopsy
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Where

1 site
Ain Shams University
Cairo, Egypt
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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