Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy
Abstract Sorbitol dehydrogenase gene (SORD) has been identified as a novel causative gene of recessive forms of hereditary neuropathy, including Charcot–Marie–Tooth disease type 2 and distal hereditary motor neuropathy (dHMN). Our findings reveal two novel variants (c.404 A > G and c.908 + 1 G &g...
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Autores principales: | , , , , |
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Formato: | article |
Lenguaje: | EN |
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Nature Portfolio
2021
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Acceso en línea: | https://doaj.org/article/16f9d9bdfe284a10959058de45bf4c41 |
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