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

Topal S., Kose M. D., Agin H., Sari F., Colak M., Atakul G., ...More

TURKISH JOURNAL OF PEDIATRICS, vol.62, no.4, pp.647-651, 2020 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 62 Issue: 4
  • Publication Date: 2020
  • Doi Number: 10.24953/turkjped.2020.04.015
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.647-651
  • Keywords: creatine kinase, rhabdomyolysis, LPIN1 deficiency, MUTATIONS
  • Dokuz Eylül University Affiliated: Yes

Abstract

Background. Rhabdomyolysis; can occur due to toxic, infectious, metabolic, and genetic causes. Severe rhabdomyolysis may progress to several clinical manifestations such as cardiac arrest and may pose a risk of mortality if it is not treated timely.