SORD-Deficiency: Decoding This Newly Discovered and Confusing CMT Subtype
November 2, 2022
Gracing the May 2020 cover of Nature Genetics, researchers announced the discovery of a new Charcot-Marie-Tooth Disease subtype caused by autosomal recessive mutations in the SORD gene. Aptly named SORD-Deficiency, this subtype has a unique feature not seen elsewhere in CMT.
"SORD-Deficiency: Decoding This Newly Discovered CMT Subtype" explores what makes SORD-Deficiency CMT so different from every other CMT subtype, and discusses why SORD-Deficiency is CMT.