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Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families.

Neurogenetics - 1 Apr 2024

Safwat Sylvia, Flannery Kyle P, El Beheiry Ahmed A, Mokhtar Mohamed M, Abdalla Ebtesam, Manzini M Chiara

Abstract excerpt

Congenital muscular dystrophies (CMDs) are a group of rare muscle disorders characterized by early onset hypotonia and motor developmental delay associated with brain malformations with or without eye anomalies in the most severe cases. In this study, we aimed to uncover the genetic basis of severe CMD in Egypt and to determine the efficacy of whole exome sequencing (WES)-based genetic diagnosis in this...

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Identifiers

PMID: 38296890
DOI: 10.1007/s10048-024-00745-z
PMCID: PMC11076401

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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