Portal de Periódicos da CAPES

A new X‐linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia

1985; Wiley; Volume: 20; Issue: 4 Linguagem: Inglês

10.1002/ajmg.1320200405

1096-8628

Peter Wieacker, G. Wolff, Thomas F. Wienker, M. Sauer, John M. Opitz, James F. Reynolds,

RNA modifications and cancer

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).