Universität zu Köln

Yis, Uluc, Baydan, Figen, Karakaya, Mert, Kurul, Semra Hiz and Cirak, Sebahattin (2016). Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies. Biomed Res. Int., 2016. LONDON: HINDAWI LTD. ISSN 2314-6141

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Abstract

Megaconial congenital muscular dystrophy (OMIM 602541) is characterized with early-onset hypotonia, muscle wasting, proximal weakness, cardiomyopathy, mildly elevated serum creatine kinase (CK) levels, and mild-to-moderate intellectual disability. We report two siblings in a consanguineous family admitted for psychomotor delay. Physical examination revealed proximal muscle weakness, contractures in the knee of elder sibling, diffuse mild generalized muscle atrophy, and dry skin with ichthyosis together with multiple nummular eczema in both siblings. Serum CK values were elevated up to 500 U/L. For genetic work-up, we performed whole exome sequencing (WES) after Nimblegen enrichment on the Illumina platform. The WES revealed a novel homozygous missense mutation in the Choline Kinase-Beta (CHKB) gene c.1031G>A (p.R344Q) in exon 9. Ichthyosis-like skin changes with intense pruritus and nummular eczema may lead to clinical diagnosis in cases with megaconial congenital muscular dystrophy.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Yis, Uluc UNSPECIFIED UNSPECIFIED UNSPECIFIED Baydan, Figen UNSPECIFIED UNSPECIFIED UNSPECIFIED Karakaya, Mert UNSPECIFIED UNSPECIFIED UNSPECIFIED Kurul, Semra Hiz UNSPECIFIED UNSPECIFIED UNSPECIFIED Cirak, Sebahattin UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-290291
DOI:	10.1155/2016/3128735
Journal or Publication Title:	Biomed Res. Int.
Volume:	2016
Date:	2016
Publisher:	HINDAWI LTD
Place of Publication:	LONDON
ISSN:	2314-6141
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language MUTATIONS; GENE Multiple languages Biotechnology & Applied Microbiology; Medicine, Research & Experimental Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/29029