A Variant in SLC25A4 Leads to Mitochondrial DNA-Depletion Syndrome-12A Causing Neonatal Hypotonia and HypoventilationFunding None.
Congenital hypotonia and hypoventilation is a rare association. We report a rare case of a female newborn with poor respiratory drive, ventilator dependency, severe hypotonia, cardiomyopathy, and premature death. Clinical-exome-sequencing revealed SLC25A4-related mitochondrial deoxyribonucleic acid (DNA) depletion syndrome-12A (cardiomyopathic type). This syndrome is apparent at birth and carries a poor prognosis.
K.P.S. Clinical management and manuscript preparation.
S.B.: Clinical management and manuscript preparation.
S.M.: Clinical management and manuscript preparation.
Received: 07 November 2020
Accepted: 22 December 2020
02 February 2021 (online)
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