Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation

Juliette Bacquet (1, 2) , Tanya Stojkovic (3) , Amandine Boyer (1) , Nathalie Martini (1) , Frédérique Audic (4, 2) , Brigitte Chabrol (4, 2) , Emmanuelle Salort-Campana (5, 2) , Émilien Delmont (5) , Jean-Pierre Desvignes (2) , Annie Verschueren (5) , Shahram Attarian (5, 2) , Annabelle Chaussenot (6) , Valérie Delague (2) , Nicolas Lévy (2, 1) , Nathalie Bonello-Palot (2, 1)

1 Laboratoire de Génétique Moléculaire [Hôpital de la Timone - APHM]
2 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille
3 Institut de Myologie
4 Service de Neurologie Pédiatrique
5 Centre de référence des maladies neuromusculaires et de la SLA
6 Service de génétique médicale

Domains: Life Sciences [q-bio]; Genetics; Human genetics

Juliette Bacquet, Tanya Stojkovic, Amandine Boyer, Nathalie Martini, Frédérique Audic, et al.. Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation. BMJ Open, 2018, 8 (10), pp.e021632. ⟨10.1136/bmjopen-2018-021632⟩. ⟨hal-01984168⟩