A case report: identification of a novel exon 1 deletion mutation in the GNE gene in a Chinese patient with GNE myopathy

RATIONALE: GNE myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase(GNE) gene and is clinically characterized by progressive weakness and atrophy of the lower-limb muscles with quadriceps sparing. Nearly all GNE mutations that have been reported thus...

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Detalles Bibliográficos
Autores principales: Miao, Jing, Wei, Xiao-jing, Wang, Xu, Yin, Xiang, Yu, Xue-fan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2020
Materias:
5300
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7544422/
https://www.ncbi.nlm.nih.gov/pubmed/33031330
http://dx.doi.org/10.1097/MD.0000000000022663

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7544422/
https://www.ncbi.nlm.nih.gov/pubmed/33031330
http://dx.doi.org/10.1097/MD.0000000000022663

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