Universität zu Köln

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:	Creators Email ORCID ORCID Put Code Yis, Uluc UNSPECIFIED UNSPECIFIED UNSPECIFIED Dixit, Vishal UNSPECIFIED UNSPECIFIED UNSPECIFIED Isikay, Sedat UNSPECIFIED UNSPECIFIED UNSPECIFIED Karakaya, Mert UNSPECIFIED UNSPECIFIED UNSPECIFIED Baydan, Figen UNSPECIFIED UNSPECIFIED UNSPECIFIED Diniz, Gulden UNSPECIFIED UNSPECIFIED UNSPECIFIED Polat, Ipek UNSPECIFIED UNSPECIFIED UNSPECIFIED Hiz-Kurul, Semra UNSPECIFIED UNSPECIFIED UNSPECIFIED Cirak, Sebahattin UNSPECIFIED UNSPECIFIED UNSPECIFIED
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:	Keywords Language CONGENITAL MUSCULAR-DYSTROPHY; CORTICAL DYSPLASIA; EPILEPSY Multiple languages Pediatrics Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/23142