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Article

Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS-related disorders.

American journal of medical genetics. Part A - 1 Sept 2022

Lok Aishin, Fernandez-Garcia Miguel A, Taylor Robert W, French Courtney, MacFarland Robert, Bodi Istvan, Champion Michael, Josifova Dragana, Raymond Frances Lucy, Iuso Arcangela, Jungbluth Heinz, Milan Anna, Singh Rahul R

Abstract excerpt

Biallelic pathogenic variants in phosphopantothenoylcysteine synthetase, PPCS, are a rare cause of a severe early-onset dilated cardiomyopathy with high morbidity and mortality. To date, only five individuals with PPCS-mutations have been reported. Here, we report a female infant who presented in the neonatal period with hypotonia, a necrotizing myopathy with intermittent rhabdomyolysis and other extracardiac...

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PMID: 35616428
DOI: 10.1002/ajmg.a.62848

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