Phenotype - Genotype Correlation in a Sample of Egyptian Patients With Congenital Myopathies and Congenital Muscular Dystrophies - NCT07138963

RECRUITING

NCT07138963

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

Sponsor: Ain Shams University

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.

Key Details

Gender

All

Age Range

1 Year - 18 Years

Study Type

OBSERVATIONAL

Enrollment

25

Start Date

2024-06-30

Completion Date

2026-06-30

Last Updated

2025-08-24

Healthy Volunteers

Yes

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.

Locations (1)

Ain Shams University

Cairo, Egypt

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