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  • Molecular assay reagents intended to identify mutations in the myotubular myopathy 1 (MTM1) gene, located at chromosome Xq28, which encodes for a lipid phosphatase required for muscle cell differentiation. Mutations at this locus have been identified in patients with X-linked myotubular myopathy type 1 (also called X-linked centronuclear myopathy).
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