Key result
Biallelic LPIN1 mutations link to severe rhabdomyolysis, with ~40% of heterozygous relatives experiencing myalgia.
Observational (n=171)
LPIN1 mutations are a major cause of early-onset rhabdomyolysis, while LPIN2 and LPIN3 do not appear to be associated with muscular manifestations.
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LPIN1 testing may be considered in early-onset rhabdomyolysis; leaves open pathogenicity of heterozygous variants and LPIN2/3 involvement.
Michot et al. (2012) conducted an observational in Rhabdomyolysis and exercise-induced myalgia (n=171). LPIN1, LPIN2, and LPIN3 mutations was evaluated on Identification of LPIN family gene mutations and associated clinical findings. Biallelic LPIN1 mutations were identified in 18 patients presenting with severe rhabdomyolysis, while at least 40% of heterozygous relatives presented with muscular myalgia.
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