Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-Methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and leigh-Like Syndrome) caused by novel mutations in SERAC1
Version of Record online: 5 AUG 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 9, pages 2204–2215, September 2013
How to Cite
2013. Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy, and Leigh-like syndrome) caused by novel mutations in SERAC1. Am J Med Genet Part A 161A:2204–2215., , , , , , , , , .
Most papers in the medical literature refer to MEGDEL as an “association.” Since this condition is causality defined, I agree that this entity is a syndrome. As indicated in the paper, the authors propose calling this condition, the MEGDHEL syndrome adding the H for the hepatopathy.
John C. Carey
Conflict of interest: none.
- Issue online: 14 AUG 2013
- Version of Record online: 5 AUG 2013
- Manuscript Accepted: 19 APR 2013
- Manuscript Received: 14 SEP 2012
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FIG. S1. SERAC1 expression in different tissues. SERAC1 RNA expression was assessed in 22 different tissues. Results are provided as percentage of SERAC1 expression relative to its level of expression in thyroid (that showed the highest expression) after normalization to ACTB.
Table S1. Oligonucleotides and PCR Conditions
Table S2. Fine Mapping of the Disease Interval
Table S3. Exome Sequencing Details
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