Key result
A novel homozygous pathogenic mutation [c.1696G > C p. (Asp566His)] in the LPIN1 gene was identified as the cause of severe rhabdomyolysis in a 26-month-old patient.
Case Report (n=1)
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LPIN1 deficiency should be considered in infants presenting with severe rhabdomyolysis to facilitate early diagnosis and appropriate treatment.
Topal et al. (2020) conducted a case report in Rhabdomyolysis (n=1). LPIN1 gene defect was evaluated on Identification of genetic mutation. A novel homozygous pathogenic mutation [c.1696G > C p. (Asp566His)] in the LPIN1 gene was identified as the cause of severe rhabdomyolysis in a 26-month-old patient.
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