LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology
Reference25 articles.
1. Rhabdomyolysis: a review, with emphasis on the pediatric population;Elsayed;Pediatr. Nephrol.,2010
2. Myopathic causes of exercise intolerance with rhabdomyolysis;Quinlivan;Dev. Med. Child Neurol.,2012
3. LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood;Michot;Hum. Mutat.,2010
4. Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood;Zeharia;Am. J. Hum. Genet.,2008
5. A novel therapeutic approach for LPIN1 mutation-associated rhabdomyolysis–the Austrian experience;Pichler;Muscle Nerve,2015
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1. Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142: A Case Report and Review of the UPD2 Literature;Global Medical Genetics;2024-01
2. Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency;Molecular Genetics and Metabolism Reports;2023-06
3. Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin‐1‐deficient patients;Journal of Inherited Metabolic Disease;2023-02-03
4. LPIN1 rhabdomyolysis: A single site cohort description and treatment recommendations;Molecular Genetics and Metabolism Reports;2022-03
5. Lipin 1 modulates mRNA splicing during fasting adaptation in liver;JCI Insight;2021-09-08
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