Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C

M. Tazir (1) , H Azzedine (2) , S. Assami (1) , Philippe Sindou (3) , S Nouioua (1) , R Zemmouri (1) , T. Hamadouche (4) , M. Chaouch (5) , J Feingold (2) , Jean-Michel Vallat (3) , Eric Leguern (6) , D. Grid (7)

1 Service de Neurologie, Centre Hospitalier UniversitaireMustapha
2 INSERM U 289 and Federation of Neurology, Salpt- trikre Hospital, Paris, France.
3 Service de Neurologie [CHU Limoges]
4 Laboratoire de Biologie Moleculaire, InstitutPasteur
5 Service de Neurologie, Centre HospitalierUniversitaire de Ben-Aknoun, Alger, Algeria
6 De¬partement de Ge¬ne¬tique,Cytoge¬ne¬tique et Embryologie, Ho√pital de laPitie¬-Salpe√trie¡re, Paris
7 Généthon

Domaines: Biologie cellulaire

M. Tazir, H Azzedine, S. Assami, Philippe Sindou, S Nouioua, et al.. Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C. Brain - A Journal of Neurology , 2004, 127 (1), pp.154-163. ⟨10.1093/brain/awh021⟩. ⟨hal-02504352⟩