LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy

Fatty acid oxidation disorders and lipin-1 deficiency are the commonest genetic causes of rhabdomyolysis in children. We describe a lipin-1-deficient boy with recurrent, severe rhabdomyolytic episodes from the age of 4 years. Analysis of the LPIN1 gene that encodes lipin-1 revealed a novel homozygou...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Meijer, I.A., Sasarman, F., Maftei, C., Rossignol, E., Vanasse, M., Major, P., Mitchell, G.A., Brunel-Guitton, C.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2015
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5471397/
https://ncbi.nlm.nih.gov/pubmed/28649549
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2015.10.010
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