Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 25-02-2009
Symbol BROD
Location 16p12.1
Name Brody myopathy
Corresponding gene ATP2A1
Main clinical features
  • a lifelong history of exercise-induced impairment of muscle relaxation, stiffness and cramps
  • disorder of muscle function that is characterized by painless muscle cramping and exercise-induced impairment of muscle relaxation
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name ATPase, Ca++ transporting (ATP2A1)
    Gene mutationChromosome rearrangementEffectComments
    various types   truncated protein one mutation at the splice donor site of intron 3, two mutations leading to premature stop codons
    missense     mutations T2366C, T2455C