Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease.

doi:10.1002/ana.78005

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Article

Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease.

Annals of neurology - 1 Dec 2025

Estévez-Arias Berta, Sarv Siiri, Bonello-Palot Nathalie, Carrera-García Laura, Ortez Carlos, Expósito-Escudero Jesica, Yubero Delia, Muchart Jordi, Delmont Emilien, Õiglane-Shlik Eve, Meren Teele, Puusepp Sanna, Murumets Ülle, Salomons Gajja S, Udd Bjarne, Väli Liis, Cantarero Lara, Bönnemann Carsten G, Nascimento Andrés, Ramón-Maiques Santiago, Õunap Katrin, Hoenicka Janet, Natera-de Benito Daniel, Palau Francesc

Abstract excerpt

OBJECTIVE: Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of genetic neuropathies, with >90 genes identified. Several aminoacyl-tRNA synthetases have been linked to CMT. DARS2, encoding the mitochondrial aspartyl-tRNA synthetase, has been typically associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation. This study aimed to investigate the association...

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PMID: 40814755
DOI: 10.1002/ana.78005
PMCID: PMC12682944

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