LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy
Keywords: aCGH, array comparative genomic hybridization; CK, creatine kinase; UPD, uniparental disomy; DAG, diacylglycerol; PA, phosphatidic acidCreatine kinase; Rhabdomyolysis; LPIN1; Lipin-1; Chromosome 2; Uniparental disomy; Treatment