2021
DOI: 10.1051/medsci/2021188
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Les neuropathies héréditaires associées au gène SORD

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.

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