Genetic mutations: Predisposing but not causative?

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

 

Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy)

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