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J Med Genet. 1986 Jun;23(3):231-6.

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

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.

PMID:
3723551
PMCID:
PMC1049633
DOI:
10.1136/jmg.23.3.231
[Indexed for MEDLINE]
Free PMC Article

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