Decoding GNE Myopathy: From Molecular Basis to Therapeutic Advances
GNE myopathy is a rare, adult-onset, autosomal recessive muscle disorder caused by biallelic pathogenic variants in the GNE gene, which encodes a key enzyme in the biosynthesis of sialic acid. Deficient GNE enzyme activity results in decreased production of sialic acid and subsequent hyposialylation...
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| Autores principales: | , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Wolters Kluwer Medknow Publications
2025-09-01
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| Colección: | Annals of Indian Academy of Neurology |
| Materias: | |
| Acceso en línea: | https://journals.lww.com/10.4103/aian.aian_837_25 |
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