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SORD-Deficiency: Decoding This Newly Discovered and Confusing CMT Subtype

File Size:

8.05 MB

Release Date:

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.

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