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

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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Bibliographic Details
Main Authors: Jantima Tanboon, Kanjana Rongsa, Manop Pithukpakorn, Kanokwan Boonyapisit, Chanin Limwongse, Tumtip Sangruchi
Format: Article
Language:English
Published: Karger Publishers 2014-03-01
Series:Case Reports in Neurology
Subjects:
Distal myopathy with rimmed vacuoles
Hereditary inclusion body myopathy
UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase
Inflammation
Online Access:http://www.karger.com/Article/FullText/360730

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http://www.karger.com/Article/FullText/360730

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