Article
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.
American journal of medical genetics. Part A - 1 Dec 2023
Furuta Yutaka, Nelson Erica T, Neumann Serena M, Phillips John A, Hamid Rizwan, Tinker Rory J, Cogan Joy D, Rives Lynette, Newman John H
Abstract excerpt
A 72-year-old man was referred to the Undiagnosed Diseases Network (UDN) because of gradual progressive weakness in both lower extremities for the past 45 years. He was initially diagnosed as having Charcot-Marie-Tooth disease type 2 (CMT2) without a defined molecular genetic cause. Exome sequencing (ES) failed to detect deleterious neuromuscular variants. Very recently, biallelic variants in sorbitol...
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