Format

Send to

Choose Destination
Med Sci (Paris). 2019 Nov;35 Hors série n° 2:15-17. doi: 10.1051/medsci/2019237. Epub 2019 Dec 20.

[When all roads lead to Africa…].

[Article in French; Abstract available in French from the publisher]

Author information

1
Centre de compétence neuromusculaire, 64700 Hendaye, France.
2
Kuwait Medical Genetic Centre, Kuwait.

Abstract

in English, French

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.

PMID:
31859625
DOI:
10.1051/medsci/2019237

Supplemental Content

Full text links

Icon for EDP Sciences
Loading ...
Support Center