Intrafamilial Variability in LPIN1-Related Rhabdomyolysis

LPIN1 molecular alterations were identified as a major cause of severe recurrent rhabdomyolysis. The prognosis is poor, with a third of patients dying from cardiac arrest during an acute episode. We describe herein a familial case of a young boy and his mother both affected by the same homozygous LP...

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Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: Pons, Linda, Acquaviva-Bourdain, Cécile, Teyssedre, Sonia, Didier, Capucine, Veauville, Alice, Steffann, Julie, Gobin, Stéphanie, de Lonlay, Pascale, Guffon, Nathalie, Fouilhoux, Alain
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2020
Assuntos:
Novel Insights from Clinical Practice
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7445576/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000507719
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