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Identification of a de-novo variant of the MEGF10 gene associated with EMARDD.

Revista espanola de patologia : publicacion oficial de la Sociedad Espanola de Anatomia Patologica y de la Sociedad Espanola de Citologia - 1 Jan 2025

Darfallah Loubna, Sifeddine Najat, Amalou Ghita, El Cadi Chaimaa Ait, Lakhiari Hamid, Barakat Abdelhamid, Rouba Hassan

Abstract excerpt

Early-onset Myopathy, Areflexia, Respiratory Distress and Dysphagia (EMARDD) is a congenital neuromuscular disease with a progressive muscle weakness, respiratory failure, joint contractures, and scoliosis without any symptoms of functional brain anomalies caused by variants in the MEGF10 gene. Here, we report the clinical phenotype and genetic features of a Moroccan patient who carries a novel variant associated...

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Identifiers

PMID: 39827508
DOI: 10.1016/j.patol.2024.100795

Genes

MEGF10

Variants

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