A new X‐linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia
- 1 April 1985
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 20 (4), 597-606
- https://doi.org/10.1002/ajmg.1320200405
Abstract
Six men from three generations of one family had manifestations of a possible new syndrome. All had congenital contractures of the feet at birth, a slowly progressive predominantly distal muscle atrophy, dyspraxia of the eye, face, and tongue muscles, and mild mental retardation. The pedigree is compatible with X‐linked recessive inheritance with no detectable manifestations in the obligate carriers. Linkage analysis excludes close linkage with the Xg locus and a polymorphic DNA sequence from the long arm of the X chromosome (DXS17).Keywords
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