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Article

[When all roads lead to Africa…].

Medecine sciences : M/S - 1 Nov 2019

Urtizberea J Andoni, Alrohaif Hadil, Gouda Sayed A, Bastaki Laila

Abstract excerpt

Congenital myopathies represent a quite heterogeneous group of neuromuscular disorders both at the clinical and genetic level. High-throughput sequencing (NGS), targeted or not, combined with muscle pathology, greatly facilitate their accurate characterization and occasionally lead to unexpected discoveries like in the case reported here in a Kuwaiti family facing a long diagnostic odyssey. TITLE: Quand tous les...

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Identifiers

PMID: 31859625
DOI: 10.1051/medsci/2019237

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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