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Article

Recent advances in establishing a cure for GNE myopathy.

Current opinion in neurology - 1 Oct 2022

Yoshioka Wakako, Nishino Ichizo, Noguchi Satoru

Abstract excerpt

PURPOSE OF REVIEW: GNE myopathy is a rare autosomal recessive disease caused by biallelic variants in the GNE gene, which encodes an enzyme involved in sialic acid biosynthesis. No drugs are approved for the treatment of GNE myopathy. Following proof-of-concept of sialic acid supplementation efficacy in mouse models, multiple clinical trials have been conducted. Here, we review clinical trials of sialic acid...

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Identifiers

PMID: 35959526
DOI: 10.1097/WCO.0000000000001090

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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