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. 1986 Jun;23(3):231–236. doi: 10.1136/jmg.23.3.231

Freeman-Sheldon syndrome: a disorder of congenital myopathic origin?

J Vanĕk, J Janda, V Amblerová, F Losan
PMCID: PMC1049633  PMID: 3723551

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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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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