title: Congenital mirror movements in a patient with alpha-dystroglycanopathy due to a novel POMK mutation.
abstract: Dystroglycanopathies are a heterogeneous group of muscular dystrophies often associated with variable brain and eye involvement. Glycosylated alpha-dystroglycan (ADG) plays a key role in the development and stability of basement membranes as well as organizing axon guidance in the central nervous system. Congenital mirror movements, either isolated or in association with several genetic syndromes, are defined as inability to perform unimanual movements. We report an adolescent boy with limb-girdle muscular dystrophy due to ADG deficiency and coexisting congenital mirror movements. Genetic work-up revealed a novel homozygous missense mutation in the protein O-mannose kinase (POMK) gene. To our knowledge, this is the first patient in the literature with POMK mutation and congenital mirror movements.
authors.affiliation: Department of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
authors.forename: Didem
authors.initials: D
authors.lastname: Ardicli
authors.affiliation: Department of Radiology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
authors.forename: Rahsan
authors.initials: R
authors.lastname: Gocmen
authors.affiliation: Department of Pediatrics, Pathology Unit, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
authors.forename: Beril
authors.initials: B
authors.lastname: Talim
authors.affiliation: University Hospital Cologne, Department of Pediatrics, Kerpener Str. 62, 50931 Cologne, Germany; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch-Str. 21, 50931 Cologne, Germany.
authors.forename: Rosanne
authors.initials: R
authors.lastname: Sprute
authors.affiliation: Department of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
authors.forename: Goknur
authors.initials: G
authors.lastname: Haliloglu
authors.affiliation: University Hospital Cologne, Department of Pediatrics, Kerpener Str. 62, 50931 Cologne, Germany; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch-Str. 21, 50931 Cologne, Germany.
authors.forename: Sebahattin
authors.initials: S
authors.lastname: Cirak
authors.affiliation: Department of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey. Electronic address: htopalog@hacettepe.edu.tr.
authors.forename: Haluk
authors.initials: H
authors.lastname: Topaloglu
mesh_terms: D000293:Adolescent; D049030:Dystroglycans / Q000172:deficiency*; D006801:Humans; D008297:Male; D009069:Movement Disorders / Q000209:etiology / Q000235:genetics / Q000503:physiopathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000150:complications / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D011494:Protein Kinases / Q000235:genetics*
chemical_list: C483081:DAG1 protein, human; D049030:Dystroglycans; C583116:POMK protein, human; D011494:Protein Kinases