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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Detalhes bibliográficos
Publicado no:Mitochondrion
Main Authors: Knight, Kaz M., Shelkowitz, Emily, Larson, Austin A., Mirsky, David M., Wang, Yue, Chen, Ting, Wong, Lee-Jun, Friederich, Marisa W., Van Hove, Johan L.K.
Formato: Artigo
Idioma:Inglês
Publicado em: 2020
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Article
Acesso em linha: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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