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Congenital muscle dystrophies: Role of singleton whole exome sequencing in countries with limited resources.

Clinical neurology and neurosurgery - 1 Jun 2022

Masri Amira T, Oweis Liyana, Qudah Abdelkarim Al, El-Shanti Hatem

Abstract excerpt

AIM: Identify the genetic determinants of congenital muscle dystrophy (CMD) in Jordanian children. METHODS: This prospective study included patients suspected to have CMD. Singleton whole-exome sequencing (WES) was performed as the first-tier diagnostic test. RESULTS: 44 patients were included: 27 boys and 17 girls. Consanguinity was reported in 32/44 (72.7%) patients, and a positive family history in 16/44...

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PMID: 35533453
DOI: 10.1016/j.clineuro.2022.107271

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