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. 2021 Nov:37 Hors série n° 1:30-31.
doi: 10.1051/medsci/2021188. Epub 2021 Dec 8.

[SORD-related hereditary neuropathies]

[Article in French]
Gorka Fernández-Eulate  1 , Arnaud Bruneel  2 , Tanya Stojkovic  3
Affiliations
Free article

[SORD-related hereditary neuropathies]

[Article in French]
Gorka Fernández-Eulate et al. Med Sci (Paris). 2021 Nov.
Free article

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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References

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    1. Cortese A, Zhu Y, Rebelo AP, et al. Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nat Genet 2020; 52 : 473–481.
    1. Frasquet M, Rojas-García R, Argente-Escrig H, et al. Distal hereditary motor neuropathies: mutation spectrum and genotype-phenotype correlation. Eur J Neurol 2021; 28 : 1334–1343.
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