کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3081753 | 1189391 | 2007 | 7 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy](/preview/png/3081753.png)
We aimed to correlate pathologic findings with MTM1 mutation type in a series of molecularly defined XLMTM cases. Clinical data from 15 XLMTM patients and their corresponding 16 muscle biopsies were studied. All patients were infants (range: 6–217 days old) when initially biopsied. The proportion of myofibers with central nuclei did not correlate with clinical outcome, however, morphometric studies showed that survivors had larger myofiber diameters in infancy than those who died (10.4 ± 3.9 μm versus 8.9 ± 3 μm; p < 0.001). As a corollary, patients with MTM1 missense mutations had larger myofiber diameters (11.1 ± 4 μm), than those with truncation/deletion mutations (8.6 ± 2.7 μm) (controls 11.7 ± 2.5 μm) (p < 0.0001). These data indicate that differences in myofiber size correlate with MTM1 mutation type and patient outcome. Failure to attain and/or maintain myofiber size, along with fiber type perturbations and the misplacement of myofiber nuclei and other organelles, are important components of XLMTM muscle pathology.
Journal: Neuromuscular Disorders - Volume 17, Issue 7, July 2007, Pages 562–568