CONGENITAL MYOPATHY WITH FIBER-TYPE DISPROPORTION - A FAMILY WITH A CHROMOSOMAL TRANSLOCATION T(1017) MAY INDICATE CANDIDATE GENE REGIONS

A patient with myopathy and congenital fiber type disproportion presen ted at birth with arthrogryposis multiplex congenita, dislocation of t he hips and mild scoliosis. Later in life she developed marked muscle weakness. A balanced chromosomal translocation t(10;17) (p11.2;q25), t ransmitted by the clinically healthy mother, who nevertheless showed d iscrete signs of myopathy, was demonstrated. DNA analysis excluded mat ernal uniparental disomy for loci on both chromosomes 10 and 17. We su ggest that the translocation breakpoints are candidate regions for a m yopathy gene.