The rapid evolution and widespread use of next generation sequencing (NGS) in clinical
laboratories has allowed an incredible progress in the genetic diagnostics of several …

Limb-girdle muscular dystrophies (LGMDs) are genetically heterogeneous and the
diagnostic work-up including conventional genetic testing using Sanger sequencing …

The practical basis for massive parallel sequencing is described to help clinicians in
choosing the most adequate diagnostic approach for childhood myopathies. The key quality …

Spinal muscular atrophies (SMAs) are a heterogeneous group of disorders characterized by
muscular atrophy, weakness, and hypotonia due to suspected lower motor neuron …

Despite recent advances in the understanding of inherited muscle and neuromuscular
junction diseases, as well as the advent of a wide range of genetic tests, patients continue to …

The 219th ENMC (European Neuromuscular Centre) workshop took place in Heemskerk,
The Netherlands, on the weekend of 29 April–1 May, 2016, and focused on titinopathies and …

Massively parallel sequencing is rapidly becoming a widely used method in genetic
diagnostics. However, there is still no clear consensus as to which approach can most …

Résumé La diffusion du séquençage haut débit (ou NGS pour Next Generation Sequencing)
représente un tel changement d'échelle par rapport aux méthodes classiques que les …

Malgré les efforts de la recherche biomédicale, les mécanismes pathologiques et les cibles
thérapeutiques des maladies restent difficiles à identifier. L'essor des technologies à haut …

Le dialogue entre généticiens et cliniciens est devenu plus que jamais nécessaire avec
l'implémentation du NGS pour le diagnostic génétique de pathologies hétérogènes. Une …