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Naxos syndrome

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It has been associated with mutations in the genes encoding the proteins desmoplakin, plakoglobin, desmocollin-2, and SRC-interacting protein (SIP). Naxos disease has the same cutaneous phenotype as the Carvajal syndrome.

Symptoms

Between 80 and 99% of those with Naxos disease will display some of the following symptoms:

  • Disease of the heart muscle
  • Thickening of palms and soles
  • Sudden increased heart rate
  • Dizzy spells
  • Kinked hair

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