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References OMIM Gene GeneReviews HGMD HGNC
last update : 09-01-2018
Symbol SPMM
Location 14q11.2
Name scapuloperoneal syndrome, myopathic type
Corresponding gene MYH7
Main clinical features
  • adult-onset scapuloperoneal myopathy
  • hyperCKemia (elevated serum creatine kinase), proximal and distal myopathy with muscle hypertrophy
  • muscle MRI identified a unique pattern in the posterior compartment of the thigh, characterized by early involvement of the biceps femoris and semimembranosus, with relative sparing of the semitendinosus
  • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease