Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement

Jean-Baptiste Noury , Thierry Maisonobe (1) , Pascale Richard (2) , Valérie Delague (3) , Edoardo Malfatti (1) , Tanya Stojkovic (4)

1 CHU Pitié-Salpêtrière [AP-HP]
2 Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire et Cellulaire
3 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille
4 Institut de Myologie

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

Jean-Baptiste Noury, Thierry Maisonobe, Pascale Richard, Valérie Delague, Edoardo Malfatti, et al.. Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement. Muscle & nerve. Supplement., 2018, 57 (2), pp.330 - 334. ⟨10.1002/mus.25631⟩. ⟨hal-01790725⟩