The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Paternal Inheritance of Mitochondrial DNA
Abstract
This report describes a 28-year-old man with lifelong exercise intolerance. Evaluation revealed a mitochondrial myopathy due to a novel 2-bp mitochondrial DNA deletion in the ND2 gene, which codes for a subunit of enzyme complex I of the mitochondrial respiratory chain. Studies of the patient and his immediate family members revealed that the abnormal mitochondrial DNA was paternal in origin and accounted for 90 percent of the mitochondrial DNA in the patient's muscle.
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Citations
Cites
Uniparental inheritance of mitochondrial and chloroplast genes: mechanisms and evolution.
Birky, C. W. (1995) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.92.25.11331 · Cited by 969
Cited by
Transcriptional paradigms in mammalian mitochondrial biogenesis and function
Scarpulla, R. C. (2008) · Physiological Reviews · doi:10.1152/physrev.00025.2007 · Cited by 1,666
Transcriptional integration of mitochondrial biogenesis
Scarpulla, R. C., Vega, R. B., & Kelly, D. P. (2012) · Trends in Endocrinology & Metabolism · doi:10.1016/j.tem.2012.06.006 · Cited by 798
Parikh, S., Goldstein, A., Koenig, M. K., Scaglia, F., Enns, G. M., Saneto, R., Anselm, I., Cohen, B. H., Falk, M. J., Greene, C., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2014.177 · Cited by 607
Zeviani, M., & Spinazzola, A. (2003) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-003-0026-9 · Cited by 533
Postfertilization Autophagy of Sperm Organelles Prevents Paternal Mitochondrial DNA Transmission
Al Rawi, S., Louvet-Vallée, S., Djeddi, A., Sachse, M., Culetto, E., Hajjar, C., Boyd, L., Legouis, R., & Galy, V. (2011) · Science · doi:10.1126/science.1211878 · Cited by 461
Metadata
- Authors
- Schwartz, M., & Vissing, J.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2002-08-22
- Volume
- 347
- Issue
- 8
- Pages
- 576-580
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2079161571
- Cited by
- 692
- References
- 1
- FWCI
- 14.90
- Type
- journal article
- Language
- en
- Open access
- closed
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Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
