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

Gene expression analyses in X-linked myotubular myopathy.

BACKGROUND: X-linked myotubular myopathy (XLMTM) is a severe congenital disorder characterized by marked muscle weakness and hypotonia. Myotubularin, the protein product of the causative gene, MTM1, is thought to be a phosphatase for phosphatidylinositol-3-phosphate and may be involved in membrane trafficking. Analysis of MTM1 knocked-out mice indicates that the characteristic small fibers in XLMTM muscles are due to atrophy rather than hypoplasia. OBJECTIVE: To characterize gene expression profiling of skeletal muscles with XLMTM. METHOD: The authors analyzed the expression of more than 4,200 genes in skeletal muscles from eight patients with XLMTM using their custom cDNA microarray. RESULTS: In XLMTM, gene expression analysis revealed pathognomonic upregulation of transcripts for cytoskeletal and extracellular matrix proteins within or around atrophic myofibers. CONCLUSION: Remodeling of cytoskeletal and extracellular architecture appears to contribute to atrophy and intracellular organelle disorganization in XLMTM myofibers.[1]


  1. Gene expression analyses in X-linked myotubular myopathy. Noguchi, S., Fujita, M., Murayama, K., Kurokawa, R., Nishino, I. Neurology (2005) [Pubmed]
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