Article Text

PDF
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

Statistics from Altmetric.com

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 …

View Full Text

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Linked Articles