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Acute recurrent rhabdomyolysis in a Chinese boy associated with a novel compound heterozygous LPIN1 variant: a case report

BACKGROUND: LPIN1-related acute recurrent rhabdomyolysis (RM), first reported in 2008, is an autosomal recessive inherited metabolic disease. In recent years, LPIN1 gene variants have been identified as one of the main causes of severe RM in children in Western countries. The disease is extremely ra...

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Detalles Bibliográficos
Autores principales:	Tong, Ke, Yu, Geng-Sheng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7844980/ https://www.ncbi.nlm.nih.gov/pubmed/33514355 http://dx.doi.org/10.1186/s12883-021-02050-w

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