| Issue |
Med Sci (Paris)
Volume 37, Novembre 2021
Les Cahiers de Myologie
|
|
|---|---|---|
| Page(s) | 30 - 31 | |
| Section | Mise au point | |
| DOI | https://doi.org/10.1051/medsci/2021188 | |
| Published online | 08 December 2021 | |
Les neuropathies héréditaires associées au gène SORD
SORD-related hereditary neuropathies
1
Centre de Référence des Maladies Neuromusculaires Nord-Est/Île-de-France, Institut de Myologie, GHU Pitié-Salpêtrière, AP-HP, Paris, France
2
Centre de Référence des Maladies Lysosomales, GHU Pitié-Salpêtrière, AP-HP, Paris, France
3
Service de Biochimie Métabolique et Cellulaire, CHU Bichat, AP-HP, Paris, France
Abstract
Mutations in the SORD gene have recently been identified as a cause of autosomal Charcot-Marie-Tooth disease as well as the underlying defect in some cases of hereditary distal motoneuronopathies. Patients may be amenable to therapies in a near future.
© 2021 médecine/sciences – Inserm
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