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RecruitingNCT07138963

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

Sponsor

Ain Shams University

Enrollment

25 participants

Start Date

Jun 30, 2024

Study Type

OBSERVATIONAL

Conditions

PhenotypeGenotypeCorrectionSampleEgyptian PatientsCongenital MyopathiesCongenital Muscular Dystrophies

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

Min Age: 1 YearMax Age: 18 Years

Inclusion Criteria4

  • 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 Criteria6

  • 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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Interventions

DIAGNOSTIC_TESTGenetic 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.

Locations(1)

Ain Shams University

Cairo, Egypt

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NCT07138963

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