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[When all roads lead to Africa…].

Med Sci (Paris). 2019 Nov;35 Hors série n° 2:15-17. Epub 2019 Dec 20
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摘要


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.

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