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Expanding the Clinical Spectrum of LONP1-Related Mitochondrial Cytopathy
Pathogenic variants in the LONP1 gene have been associated with CODAS syndrome (Cerebral, Ocular, Dental, Auricular, and Skeletal Anomalies Syndrome). A recent report identified the first newborn case with LONP1-related mitochondrial cytopathy due to a compound heterozygous pathogenic variant in LON...
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| Vydáno v: | Front Neurol |
|---|---|
| Hlavní autoři: | , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Frontiers Media S.A.
2019
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6787162/ https://ncbi.nlm.nih.gov/pubmed/31636596 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2019.00981 |
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