Intrafamilial Variability inLPIN1-Related Rhabdomyolysis

Pons, L; Acquaviva-Bourdain, C; Teyssedre, S; Didier, C; Veauville, A; Steffann, J; Gobin, S; de Lonlay, P; Guffon, N; Fouilhoux, A

Pons, L (corresponding author), Hosp Civils Lyon, Ctr Reference Anomalies Dev, Serv Genet, 59 Blvd Pinel, FR-69677 Bron, France.

MOLECULAR SYNDROMOLOGY, 2020; 11 (3): 153

Abstract

LPIN1molecular alterations were identified as a major cause of severe recurrent rhabdomyolysis. The prognosis is poor, with a third of patients dying ......

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