Case Report: The first probable Hong Kong Chinese case of LPIN1-related acute recurrent rhabdomyolysis in a boy with two novel variants

Recurrent rhabdomyolysis is frequently ascribed to fatty acid ß-oxidation defects, mitochondrial respiratory chain disorders and glycogen storage-related diseases. In recent years, autosomal recessive LPIN1 mutations have been identified as a prevailing cause of severe rhabdomyolysis in children in...

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Detalhes bibliográficos
Publicado no:F1000Res
Main Authors: Yim, Sau Wing, Chan, Tina Yee Ching, Belaramani, Kiran M., Man, Sze Shun, Wong, Felix Chi Kin, Chen, Sammy Pak Lam, Lee, Hencher Han Chih, Mak, Chloe Miu, Ching, Chor Kwan
Formato: Artigo
Idioma:Inglês
Publicado em: F1000 Research Limited 2019
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6823901/
https://ncbi.nlm.nih.gov/pubmed/31723421
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12688/f1000research.20343.1
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