Hereditary IBM is an autosomal recessive myopathy characterized by distal muscle weakness, and the absence of the classical IBM phenotype. mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene has been linked with development of this myopathy. However, there has been a paucity of genotype-phenotype correlation studies, critical for understanding disease mechanisms. In this issue of JNNP, a large Japanese group reports the mutation profile for the GNE gene and find phenotypic variability, underscoring the importance of a clinical context.
Read more at http://jnnp.bmj.com/content/85/8/914.abstract