Article
First presentation of LPIN1 acute rhabdomyolysis in adolescence and adulthood.
Neuromuscular disorders : NMD - 1 Jul 2020
Pizzamiglio Chiara, Lahiri Nayana, Nirmalananthan Niranjanan, Sood Bhrigu, Somalanka Subash, Ostrowski Philip, Phadke Rahul, O'Donovan Dominic Gerard, Muntoni Francesco, Quinlivan Rosaline
Abstract excerpt
LPIN1 mutations are a known common cause of autosomal recessive, recurrent and life-threatening acute rhabdomyolysis of childhood-onset. The first episode of rhabdomyolysis usually happens in nearly all cases before the age of 5 and death is observed in 1/3 of patients. Here we present two cases of acute rhabdomyolysis with a milder phenotype caused by LPIN1 mutation presenting in adolescence (11 years old) and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.