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

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 th...

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