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 (1) , Valérie Delague (2) , Edoardo Malfatti (1) , Tanya Stojkovic (3)

1 CHU Pitié-Salpêtrière [AP-HP]
2 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille
3 Institut de Myologie

Domaines: Génétique humaine; Médecine humaine et pathologie

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⟩