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Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies
Joint Authors
Yis, Uluç
Baydan, Figen
Karakaya, Mert
Hız Kurul, Semra
Cirak, Sebahattin
Source
Issue
Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-03-31
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Yis, Uluç& Baydan, Figen& Karakaya, Mert& Hız Kurul, Semra& Cirak, Sebahattin. 2016. Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies. BioMed Research International،Vol. 2016, no. 2016, pp.1-3.
https://search.emarefa.net/detail/BIM-1097235
Modern Language Association (MLA)
Yis, Uluç…[et al.]. Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies. BioMed Research International No. 2016 (2016), pp.1-3.
https://search.emarefa.net/detail/BIM-1097235
American Medical Association (AMA)
Yis, Uluç& Baydan, Figen& Karakaya, Mert& Hız Kurul, Semra& Cirak, Sebahattin. Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies. BioMed Research International. 2016. Vol. 2016, no. 2016, pp.1-3.
https://search.emarefa.net/detail/BIM-1097235
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1097235