Literature DB >> 28099567

Muscle biopsy with dystrophic pattern and rimmed vacuoles: GNE myopathy in a Brazilian patient.

Eduardo de Paula Estephan1, Cristiane Araújo Martins Moreno1, André Macedo Serafim da Silva1, Rodrigo de Holanda Mendonça1, Osório Abath Neto1, Patrícia Yoshi Nishimura2, Layla Testa Galindo2, Edmar Zanoteli1.   

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Year:  2017        PMID： 28099567     DOI： 10.1590/0004-282X20160171

Source DB:  PubMed          Journal:  Arq Neuropsiquiatr        ISSN： 0004-282X            Impact factor:   1.420


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  1 in total

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

Authors:  Jing Miao; Xiao-Jing Wei; Xu Wang; Xiang Yin; Xue-Fan Yu
Journal:  Medicine (Baltimore)       Date:  2020-10-09       Impact factor: 1.817
  1 in total

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