Large duplication in MTM1 associated with myotubular myopathy

We describe a boy with myotubular myopathy but without mutation in MTM1 by conventional sequencing. Array-CGH analysis of MTM1 uncovered a large MTM1 duplication. This finding suggests that at least some unresolved cases of myotubular myopathy are due to duplications in MTM1, and that array-CGH should be considered when MTM1 sequencing is unrevealing.

Source: Neuromuscular Disorders - February 23, 2013 Category: Neurology Authors: K. Amburgey, M.W. Lawlor, D. del Gaudio, Y.W. Cheng, C. Fitzpatrick, A. Minor, X. Li, D. Aughton, S. Das, A.H. Beggs, J.J. Dowling Tags: Research papers Source Type: research