A neglected cause of recurrent rhabdomyolysis, LPIN1 gene defect: a rare case from Turkey.

CONCLUSION: In the pediatric age group, especially in infants presenting with severe rhabdomyolysis, LPIN1 deficiency should also be considered; as early diagnosis and appropriate treatment may reduce mortality.
PMID: 32779418 [PubMed - in process]

Source: The Turkish Journal of Pediatrics - August 14, 2020 Category: Pediatrics Authors: Topal S, Köse MD, Ağın H, Sarı F, Çolak M, Atakul G, Karaarslan U, İşgüder R Tags: Turk J Pediatr Source Type: research