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Freeman-Sheldon syndrome: a disorder of congenital myopathic origin?
  1. J Vanĕk,
  2. J Janda,
  3. V Amblerová,
  4. F Losan

    Abstract

    Freeman-Sheldon syndrome was diagnosed in an unrelated adult man and woman, with severe abnormalities of the extremities but only slight anomalies of the face. Electromyography and muscle biopsy showed a myopathy which was classified as a congenital disproportion of fibre type and seemed to be the primary cause of the deformities. This allowed classification of the syndrome as a separate type of myopathic arthrogryposis.

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