A new X-linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia.
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).
D000293:Adolescent; D000328:Adult; D001072:Apraxias / Q000235:genetics*; D003286:Contracture / Q000151:congenital*; D004247:DNA / Q000235:genetics; D005152:Facial Muscles / Q000503:physiopathology; D005260:Female; D005528:Foot; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009133:Muscular Atrophy / Q000235:genetics*; D009801:Oculomotor Muscles / Q000503:physiopathology*; D010375:Pedigree; D011110:Polymorphism, Genetic; D013577:Syndrome; D014960:X Chromosome
D004247:DNA