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Article

The impact of exome sequencing on the diagnostic yield of muscular dystrophies in consanguineous families.

European journal of medical genetics - 1 Apr 2020

Dardas Zain, Swedan Samer, Al-Sheikh Qassem Ahmad, Azab Belal

Abstract excerpt

Muscular dystrophies (MDs) are a heterogeneous group of inherited disorders that are characterized by progressive skeletal muscle weakness and dystrophic changes on muscle biopsy. The broad genetic and clinical heterogeneity of MDs make the accurate diagnosis difficult via conventional approaches. This study investigated 23 patients from eight unrelated consanguineous families with MDs. Previous clinical...

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Identifiers

PMID: 31953240
DOI: 10.1016/j.ejmg.2020.103845

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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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