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My connections

Pedro M Rodriguez Cruz

MD, MSc


DPhil Student

  • Congenital myasthenic syndromes (CMS) are a group of heterogeneous inherited disorders caused by mutations in genes encoding for proteins that are essential for neuromuscular transmission.
  • My DPhil work, under the supervision of Prof David Beeson and Dr Jacqueline Palace, consisted in the clinical and molecular characterisation of novel myasthenic syndromes, with a focus in understanding disease mechanisms to guide appropriate pharmacological treatment

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