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References OMIM Gene GeneReviews HGMD HGNC
last update : 24-06-2011
Symbol MGAR
Location 2p26
Name myoglobinuria, acute, recurrent
Corresponding gene LPIN1
Main clinical features
  • recurrent bouts of rhabdomyolysis, with CK > 10,000 U/L, before age 6 years (mean age of onset 30 months)
  • bouts of rhabdomyolysis were mostly precipitated by febrile illnesses, and occasionally by acute effort, anesthesia and/or fasting
  • heterozygous carriers of one of the mutations, reported a history of muscular symptoms ranging from frequent cramps to muscle weakness in 40 p100 of cases
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
  • majority of Caucasian patients displayed an identical intragenic deletion encompassing exon 18