Yis, Uluc, Dixit, Vishal, Isikay, Sedat, Karakaya, Mert, Baydan, Figen, Diniz, Gulden, Polat, Ipek, Hiz-Kurul, Semra and Cirak, Sebahattin (2017). Occipital cortex dysgenesis with white matter changes due to mutations in Laminin alpha 2. Turk. J. Pediatr., 59 (3). S. 338 - 342. ANKARA: TURKISH J PEDIATRICS. ISSN 0041-4301

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Abstract

Laminin alpha 2 related congenital muscular dystrophy is one of the most common congenital muscular dystrophies of childhood with or without clinical evidence of central nervous system involvement. It may be associated with significant white matter abnormalities resembling leukodystrophies. In this study, we elaborated on two cases with laminin alpha 2 related congenital muscular dystrophy who had occipital cortex dysgenesis in addition to characteristic white matter abnormalities. Although laminin alpha 2 related congenital muscular dystrophy with white matter abnormalities is known, the association with occipital cortex dysplasia has been not well recognized by clinical colleagues.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Yis, UlucUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dixit, VishalUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Isikay, SedatUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Karakaya, MertUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Baydan, FigenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Diniz, GuldenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Polat, IpekUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hiz-Kurul, SemraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cirak, SebahattinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-231423
DOI: 10.24953/turkjped.2017.03.018
Journal or Publication Title: Turk. J. Pediatr.
Volume: 59
Number: 3
Page Range: S. 338 - 342
Date: 2017
Publisher: TURKISH J PEDIATRICS
Place of Publication: ANKARA
ISSN: 0041-4301
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
CONGENITAL MUSCULAR-DYSTROPHY; CORTICAL DYSPLASIA; EPILEPSYMultiple languages
PediatricsMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/23142

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