title: Congenital myopathy with fiber type disproportion: a family with a chromosomal translocation t(10;17) may indicate candidate gene regions.
abstract: A patient with myopathy and congenital fiber type disproportion presented at birth with arthrogryposis multiplex congenita, dislocation of the hips and mild scoliosis. Later in life she developed marked muscle weakness. A balanced chromosomal translocation t(10;17) (p11.2;q25), transmitted by the clinically healthy mother, who nevertheless showed discrete signs of myopathy, was demonstrated. DNA analysis excluded maternal uniparental disomy for loci on both chromosomes 10 and 17. We suggest that the translocation breakpoints are candidate regions for a myopathy gene.
authors.affiliation: Department of Clinical Chemistry, Odense University Hospital, Denmark.
authors.forename: A M
authors.initials: AM
authors.lastname: Gerdes
authors.forename: M B
authors.initials: MB
authors.lastname: Petersen
authors.forename: H D
authors.initials: HD
authors.lastname: Schrøder
authors.forename: K
authors.initials: K
authors.lastname: Wulff
authors.forename: K
authors.initials: K
authors.lastname: Brøndum-Nielsen
mesh_terms: D002879:Chromosomes, Human, Pair 10; D002886:Chromosomes, Human, Pair 17; D005190:Family; D005260:Female; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D009132:Muscles / Q000002:abnormalities*; D017696:Myopathies, Nemaline / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D014178:Translocation, Genetic