A medical odyssey of a 72-year-old man with Charcot-Marie-Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiency.

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作者： Yutaka,Furuta ^[1] ; Erica T,Nelson ^[1] ; Serena M,Neumann ^[1] ; John A,Phillips ^[1] ; Rizwan,Hamid ^[1] ; Rory J,Tinker ^[1] ; Joy D,Cogan ^[1] ; Lynette,Rives ^[1] ; John H,Newman ^[2] ; Undiagnosed Diseases Network

作者单位： Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA. ^[1] Pulmonary Hypertension Center, Division of Allergy, Pulmonary, and Critical Care Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA. ^[2]

关键词 Charcot-Marie-Tooth disease type 2 SORD deficiency (SORDD)distal hereditary motor neuropathy sorbitol

主题词人类(Humans);男(雄)性(Male);老年人(Aged);夏科-马里-图斯病(Charcot-Marie-Tooth Disease);L-艾杜糖醇-2-脱氢酶(L-Iditol 2-Dehydrogenase);突变(Mutation)

DOI 10.1002/ajmg.a.63383

PMID 37622199

发布时间 2023-11-22

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