Article
The mitochondrial DNA variant m.9032T > C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndrome.
Mitochondrion - 1 Nov 2020
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
Abstract excerpt
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, ataxia, hearing loss, and lactic acidosis. Functional studies reveal abnormal fragment F1 of complex V on blue native...
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