A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation

Distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessive or sporadic early adult-onset myopathy caused by mutations in the UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase (GNE) gene. Characteristic pathologic features of DMRV are rimmed vacuoles on muscle biopsy and t...

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Detalles Bibliográficos
Autores principales: Tanboon, Jantima, Rongsa, Kanjana, Pithukpakorn, Manop, Boonyapisit, Kanokwan, Limwongse, Chanin, Sangruchi, Tumtip
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2014
Materias:
Published online: March, 2014
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3975748/
https://www.ncbi.nlm.nih.gov/pubmed/24707269
http://dx.doi.org/10.1159/000360730

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