title: A dynamic trinucleotide repeat (TNR) expansion in the DMD gene.
abstract: Dystrophinopathies are allelic X-linked myopathies caused by large deletions/duplications or small lesions along the DMD gene. An unexpected dynamic trinucleotide (GAA) expansion, ranging from ∼59 to 82 pure GAA repeats, within the DMD intron 62, was revealed to segregate through three family generations. From the pedigree, two female patients were referred for DMD investigation due to chronic myopathy and a muscle biopsy compatible with dystrophinopathy. As the size of the GAA repeat is limited to 11-33 within the general population our findings may provide a novel insight towards a Trinucleotide Repeat Expansion. Whether this TNR has an impact on the reported phenotype remains to be resolved.
authors.affiliation: Department of Medical Genetics, School of Medicine, University of Athens, Aghia Sophia Children's Hospital, Athens, Greece. Electronic address: kkekou@med.uoa.gr.
authors.forename: Kyriaki
authors.initials: K
authors.lastname: Kekou
authors.affiliation: Department of Medical Genetics, School of Medicine, University of Athens, Aghia Sophia Children's Hospital, Athens, Greece; Research Institute for the Study of Genetic and Malignant Diseases in Childhood, Aghia Sophia Children's Hospital, Athens, Greece.
authors.forename: Christalena
authors.initials: C
authors.lastname: Sofocleous
authors.affiliation: First Department of Neurology, School of Medicine, University of Athens, Athens, Greece.
authors.forename: George
authors.initials: G
authors.lastname: Papadimas
authors.affiliation: Department of Medical Genetics, School of Medicine, University of Athens, Aghia Sophia Children's Hospital, Athens, Greece.
authors.forename: Dimitris
authors.initials: D
authors.lastname: Petichakis
authors.affiliation: Department of Medical Genetics, School of Medicine, University of Athens, Aghia Sophia Children's Hospital, Athens, Greece.
authors.forename: Maria
authors.initials: M
authors.lastname: Svingou
authors.affiliation: First Department of Pediatrics, School of Medicine, University of Athens, Aghia Sophia Childrens' Hospital, Athens, Greece.
authors.forename: Roser-Maria
authors.initials: RM
authors.lastname: Pons
authors.affiliation: Medical School University of Crete, Heraklion Crete, Greece.
authors.forename: Pelagia
authors.initials: P
authors.lastname: Vorgia
authors.affiliation: First Department of Pediatrics, School of Medicine, University of Athens, Aghia Sophia Childrens' Hospital, Athens, Greece.
authors.forename: Artemis
authors.initials: A
authors.lastname: Gika
authors.affiliation: Department of Medical Genetics, School of Medicine, University of Athens, Aghia Sophia Children's Hospital, Athens, Greece.
authors.forename: Sophia
authors.initials: S
authors.lastname: Kitsiou-Tzeli
authors.affiliation: Department of Medical Genetics, School of Medicine, University of Athens, Aghia Sophia Children's Hospital, Athens, Greece; Research Institute for the Study of Genetic and Malignant Diseases in Childhood, Aghia Sophia Children's Hospital, Athens, Greece.
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Kanavakis
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D019175:DNA Methylation / Q000235:genetics; D016189:Dystrophin / Q000737:chemistry / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics; D010375:Pedigree; D018911:Trinucleotide Repeats / Q000235:genetics*
chemical_list: C484258:DMD protein, human; D016189:Dystrophin
keywords: BMD; DMD; Dystrophin; Manifesting carriers; Trinucleotide expansion