Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency

Am J Med Genet A. 2008 Dec 1;146A(23):3100-3. doi: 10.1002/ajmg.a.32569.
No abstract available

Publication types

  • Case Reports
  • Research Support, N.I.H., Intramural

MeSH terms

  • Adolescent
  • Albinism, Oculocutaneous / complications
  • Albinism, Oculocutaneous / diagnosis*
  • Albinism, Oculocutaneous / pathology
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Malignant Hyperthermia / genetics
  • Phenotype
  • Platelet Storage Pool Deficiency / complications
  • Platelet Storage Pool Deficiency / diagnosis*
  • Platelet Storage Pool Deficiency / pathology
  • Recurrence
  • Rhabdomyolysis / complications
  • Rhabdomyolysis / diagnosis*
  • Rhabdomyolysis / pathology