Clinical and biochemical heterogeneity in an Italian family with CPT II deficiency due to Ser 113 Leu mutation

  • Rafay M
  • Murphy E
  • McGarry J
 et al. 
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Abstract

Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive disorder which presents with recurrent myoglobinuria. Heterozygotes are usually asymptomatic.

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Authors

  • Mubeen F. Rafay

  • E. Gordon Murphy

  • J. Denis McGarry

  • Petra Kaufmann

  • Salvatore DiMauro

  • Ingrid Tein

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