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

✍ Scribed by Wieacker, Peter ;Wolff, Gerhard ;Wienker, Thomas F. ;Sauer, Michael ;Opitz, John M. ;Reynolds, James F.

• Publisher: John Wiley and Sons
• Year: 1985
• Tongue: English
• Weight: 672 KB
• Volume: 20
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320200405

✦ Synopsis

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).