Universität zu Köln

Ardicli, Didem, Gocmen, Rahsan, Talim, Beril, Sprute, Rosanne ORCID: 0000-0003-2457-6437, Haliloglu, Goknur, Cirak, Sebahattin and Topaloglu, Haluk (2017). Congenital mirror movements in a patient with alpha-dystroglycanopathy due to a novel POMK mutation. Neuromusc. Disord., 27 (3). S. 239 - 243. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

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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-inannose kinase (POMK) gene. To our knowledge, this is the first patient in the literature with POMK mutation and congenital mirror movements. (C) 2016 Elsevier B.V. All rights reserved.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Ardicli, Didem UNSPECIFIED UNSPECIFIED UNSPECIFIED Gocmen, Rahsan UNSPECIFIED UNSPECIFIED UNSPECIFIED Talim, Beril UNSPECIFIED UNSPECIFIED UNSPECIFIED Sprute, Rosanne UNSPECIFIED orcid.org/0000-0003-2457-6437 UNSPECIFIED Haliloglu, Goknur UNSPECIFIED UNSPECIFIED UNSPECIFIED Cirak, Sebahattin UNSPECIFIED UNSPECIFIED UNSPECIFIED Topaloglu, Haluk UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-238112
DOI:	10.1016/j.nmd.2016.12.008
Journal or Publication Title:	Neuromusc. Disord.
Volume:	27
Number:	3
Page Range:	S. 239 - 243
Date:	2017
Publisher:	PERGAMON-ELSEVIER SCIENCE LTD
Place of Publication:	OXFORD
ISSN:	1873-2364
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language MUSCULAR-DYSTROPHY; GLYCOSYLATION; DEFICIENCY Multiple languages Clinical Neurology; Neurosciences Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/23811