Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibres due to a DNM2 mutation.

摘要

We read with interest the article by Liewluck et al. [1], recently published in Neuromuscular Disorders 2010; 12, 801-804, where the authors describe the presence of "necklace" fibres in a sporadic case of centronuclear myopathy due to DNM2 mutations. As the authors describe in the article, there were differences between the muscle fibres present in their case and the "necklace" fibres we described in late onset centronuclear myopathies related to MTM1 mutations [2,3]. In particular, the myonuclei were not adjacent to the "necklace" area, but located in the central part of the muscle fibre.