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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Late-onset distal myopathy with rimmed vacuoles without mutation in the GNE or dysferlin genes.

We report two brothers from a Japanese family with a late-onset distal myopathy characterized by rimmed vacuoles and dysferlin deficiency with no inflammatory infiltration and dystrophic changes in muscle biopsy. Mutations in the GNE, dysferlin, caveolin 3, emerin, and lamin A/C genes were excluded. We speculate that dysferlin is involved in the pathogenesis of the myopathy in these patients, which may represent a new disease entity presenting as a distal myopathy.[1]

References

  1. Late-onset distal myopathy with rimmed vacuoles without mutation in the GNE or dysferlin genes. Suzuki, N., Aoki, M., Mizuno, H., Onodera, Y., Takahashi, T., Nagata, T., Tateyama, M., Itoyama, Y. Muscle Nerve (2005) [Pubmed]
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