Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency.

@article{Anichini2011GenotypephenotypeCI,
  title={Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency.},
  author={Angelica Anichini and Marina Fanin and Christine Vianey-Saban and Denise Cassandrini and Chiara Fiorillo and Claudio Bruno and Corrado I. Angelini},
  journal={Neurological research},
  year={2011},
  volume={33 1},
  pages={24-32}
}
OBJECTIVES The adult or 'muscular' form of carnitine-palmitoyl-transferase II (CPT II) deficiency presents with recurrent rhabdomyolytic episodes and myoglobinuria, usually triggered by prolonged exercise. The aim of this study was to investigate a large series of patients in order to provide genotype-phenotype correlations. METHODS Our muscle tissue bank was surveyed for patients showing attacks of rhabdomyolysis with myoglobinuria. After exclusion of cases affected with toxic myoglobinuria… CONTINUE READING

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