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The mitochondrial DNA variant m.9032T>C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndrome.
Diagnosing complex V deficiencies caused by new variants in mitochondrial DNA is challenging due to the rarity, phenotypic diversity, and limited functional assessments. We describe a child with the m.9032T>C variant in MT-ATP6 encoding p.(Leu169Pro), with primary presentation of microcephaly, at...
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| Pubblicato in: | Mitochondrion |
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| Autori principali: | , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7669648/ https://ncbi.nlm.nih.gov/pubmed/32931937 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mito.2020.08.009 |
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