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Tytuł:
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Congenital mirror movements in a patient with alpha-dystroglycanopathy due to a novel POMK mutation.
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Autorzy:
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Ardicli D; Department of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Gocmen R; Department of Radiology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Talim B; Department of Pediatrics, Pathology Unit, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Sprute R; 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.
Haliloglu G; Department of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Cirak S; 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.
Topaloglu H; Department of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey. Electronic address: .
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Źródło:
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Neuromuscular disorders : NMD [Neuromuscul Disord] 2017 Mar; Vol. 27 (3), pp. 239-242. Date of Electronic Publication: 2016 Dec 23.
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Typ publikacji:
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Case Reports; Journal Article
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Język:
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English
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Imprint Name(s):
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Original Publication: Oxford ; New York : Pergamon Press, c1991-
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MeSH Terms:
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Movement Disorders*/etiology
Movement Disorders*/genetics
Movement Disorders*/physiopathology
Muscular Dystrophies, Limb-Girdle*/complications
Muscular Dystrophies, Limb-Girdle*/genetics
Muscular Dystrophies, Limb-Girdle*/metabolism
Muscular Dystrophies, Limb-Girdle*/physiopathology
Dystroglycans/*deficiency
Protein Kinases/*genetics
Adolescent ; Humans ; Male
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Substance Nomenclature:
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0 (DAG1 protein, human)
146888-27-9 (Dystroglycans)
EC 2.7.- (POMK protein, human)
EC 2.7.- (Protein Kinases)
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Entry Date(s):
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Date Created: 20170123 Date Completed: 20180215 Latest Revision: 20210301
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Update Code:
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20240105
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DOI:
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10.1016/j.nmd.2016.12.008
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PMID:
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28109637
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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.
(Copyright © 2016 Elsevier B.V. All rights reserved.)
