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  • Mutation analysis of a large cohort of GNE myopathy reveals a diverse array of GNE mutations affecting sialic acid biosynthesis

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Mutation analysis of a large cohort of GNE myopathy reveals a diverse array of GNE mutations affecting sialic acid biosynthesis
  1. Kinji Ohno
  1. Correspondence to Professor K Ohno, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa-ku, Nagoya 466-8550, Japan; ohnok{at}med.nagoya-u.ac.jp

https://doi.org/10.1136/jnnp-2013-306414

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    Genotype-phenotype correlation analysis of a large single-ethnic cohort of GNE myopathy is expected to lead to personalised rational therapy.

    GNE myopathy, which is also called distal myopathy with rimmed vacuoles, Nonaka distal myopathy, quadriceps sparing myopathy, and hereditary inclusion body myopathy (hIBM or IBM2), is a late-onset autosomal recessive myopathy characterised by progressive distal muscular atrophy and weakness. Disease onsets are largely in the second …

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    Footnotes

    • Competing interests None.

    • Provenance and peer review Commissioned; internally peer reviewed.

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