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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Principais autores:	Jantima Tanboon, Kanjana Rongsa, Manop Pithukpakorn, Kanokwan Boonyapisit, Chanin Limwongse, Tumtip Sangruchi
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Karger Publishers 2014-03-01
coleção:	Case Reports in Neurology
Assuntos:	Distal myopathy with rimmed vacuoles Hereditary inclusion body myopathy UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase Inflammation
Acesso em linha:	http://www.karger.com/Article/FullText/360730
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