Demyelination in hereditary sensory neuropathy type-1C.
Sadaf SabaYongsheng ChenKrishna Rao MaddipatiMelody HackettBo HuJun LiPublished in: Annals of clinical and translational neurology (2020)
Mutations in the SPTLC2 cause a demyelinating phenotype resembling those in acquired demyelinating polyneuropathy. The species of increased DoxSLs in HSN1C may be more diverse than originally thought.
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