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

ConditionsPhenotype Genotype Correction Sample Egyptian Patients Congenital Myopathies Congenital Muscular Dystrophies

Trial statusRecruiting

Trial phaseNot listed

Trial typeObservational

Biological sexAll

Age1-18

SponsorAin Shams University

About this trial

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

Qualifiers

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.

Disqualifiers

Patients above 18 years.

Spinal muscular atrophy (SMA),and root lesions.

Congenital myasthenic syndromes

Dystrophinopathies,Duchenne Muscular Dystrophy (DMD), Limb-Girdle Muscular Dystrophy (LGMD)

Trial design

Treatments tested in this trial

Genetic Testing and Muscle Biopsy

Treatment groups

25 Participants

are divided into 1 treatment group

Sponsors and collaborators

Ain Shams University

Lead sponsor

Source ClinicalTrials.gov