Supported by grants from NICHD (P01HD032062), NINDS/NICHD (U54NS078059), and by the Marriott Mitochondrial Disorder Clinical Research Fund (MMDCRF).
Case of the Month
Mitochondrial myopathy with dystrophic features due to a novel mutation in the MTTM gene
Version of Record online: 21 JUL 2014
Published 2014 by Wiley Periodicals, Inc. This article is a US Government work and, as such, is in the public domain in the United States of America.
Muscle & Nerve
Volume 50, Issue 2, pages 292–295, August 2014
How to Cite
Peverelli, L., Gold, C. A., Naini, A. B., Tanji, K., Akman, H. O., Hirano, M. and Dimauro, S. (2014), Mitochondrial myopathy with dystrophic features due to a novel mutation in the MTTM gene. Muscle Nerve, 50: 292–295. doi: 10.1002/mus.24262
- Issue online: 21 JUL 2014
- Version of Record online: 21 JUL 2014
- Accepted manuscript online: 7 APR 2014 11:09PM EST
- Manuscript Accepted: 4 APR 2014
Additional supporting information may be found in the online version of this article.
|mus24262-sup-0001-suppappendix1.doc||32K||Supporting Information Appendix 1|
|mus24262-sup-0002-suppappendix2.pdf||12K||Appendix 2. Figure 3. PCR/RFLP analysis of muscle DNA from the patient (P) and a control (C). After digestion with Tsp509I, the normal pattern is two fragments of 145 and 63 bp, whereas, in the presence of the mutation, mtDNA is digested into four fragments of 145, 63, 34, and 29 bp. U, uncut fragment.|
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