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Article

A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency.

European journal of human genetics : EJHG - 1 Nov 2021

Lines Matthew A, Cuillerier Alexanne, Chakraborty Pranesh, Naas Turaya, Duque Lasio M Laura, Michaud Jean, Pileggi Chantal, Harper Mary-Ellen, Burelle Yan, Toler Tomi L, Sondheimer Neal, Crawford Heather P, Millan Francisca, Geraghty Michael T

Abstract excerpt

Mitochondrial disorders are a heterogeneous group of rare, degenerative multisystem disorders affecting the cell's core bioenergetic and signalling functions. Spontaneous improvement is rare. We describe a novel neonatal-onset mitochondriopathy in three infants with failure to thrive, hyperlactatemia, hyperammonemia, and apparent clinical resolution before 18 months. Exome sequencing showed all three probands to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34483339
DOI: 10.1038/s41431-021-00956-0
PMCID: PMC8560863

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