Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2
Laminin α2 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 stud...
Saved in:
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
2017-06-01
|
| Series: | The Turkish Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://turkjpediatr.org/article/view/997 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850041922039578624 |
|---|---|
| author | Uluç Yiş Vishal Dixit Sedat Işıkay Mert Karakaya Figen Baydan Gülden Diniz İpek Polat Semra Hız-Kurul Sebahattin Çırak |
| author_facet | Uluç Yiş Vishal Dixit Sedat Işıkay Mert Karakaya Figen Baydan Gülden Diniz İpek Polat Semra Hız-Kurul Sebahattin Çırak |
| author_sort | Uluç Yiş |
| collection | DOAJ |
| description |
Laminin α2 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 α2 related congenital muscular dystrophy who had occipital cortex dysgenesis in addition to characteristic white matter abnormalities. Although laminin α2 related congenital muscular dystrophy with white matter abnormalities is known, the association with occipital cortex dysplasia has been not well recognized by clinical colleagues.
|
| format | Article |
| id | doaj-art-5f993a6d43c04be8bf41b26955ffc6d7 |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2017-06-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-5f993a6d43c04be8bf41b26955ffc6d72025-08-20T02:55:41ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212017-06-0159310.24953/turkjped.2017.03.018Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2Uluç Yiş0Vishal Dixit1Sedat Işıkay2Mert Karakaya3Figen Baydan4Gülden Diniz5İpek Polat6Semra Hız-Kurul7Sebahattin Çırak8Division of Child Neurology, Department of Pediatrics, Dokuz Eylül University School of Medicine, İzmir.Institut für Humangenetik am Universitätsklinikum, Köln, Germany.Division of Child Neurology, Department of Pediatrics, Sütçü İmam University, School of Medicine, Kahramanmaraş.Institut für Humangenetik am Universitätsklinikum, Köln, Germany.Division of Child Neurology, Tepecik Training and Research Hospital, İzmir.Neuromuscular Disease Center, Tepecik Training and Research Hospital, İzmir.Division of Child Neurology, Department of Pediatrics, Dokuz Eylül University School of Medicine, İzmir.Division of Child Neurology, Department of Pediatrics, Dokuz Eylül University School of Medicine, İzmir.Institut für Humangenetik am Universitätsklinikum, Köln, Germany. Laminin α2 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 α2 related congenital muscular dystrophy who had occipital cortex dysgenesis in addition to characteristic white matter abnormalities. Although laminin α2 related congenital muscular dystrophy with white matter abnormalities is known, the association with occipital cortex dysplasia has been not well recognized by clinical colleagues. https://turkjpediatr.org/article/view/997congenital muscular dystrophydysgenesislaminin α2occipital cortex |
| spellingShingle | Uluç Yiş Vishal Dixit Sedat Işıkay Mert Karakaya Figen Baydan Gülden Diniz İpek Polat Semra Hız-Kurul Sebahattin Çırak Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2 The Turkish Journal of Pediatrics congenital muscular dystrophy dysgenesis laminin α2 occipital cortex |
| title | Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2 |
| title_full | Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2 |
| title_fullStr | Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2 |
| title_full_unstemmed | Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2 |
| title_short | Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2 |
| title_sort | occipital cortex dysgenesis with white matter changes due to mutations in laminin a2 |
| topic | congenital muscular dystrophy dysgenesis laminin α2 occipital cortex |
| url | https://turkjpediatr.org/article/view/997 |
| work_keys_str_mv | AT ulucyis occipitalcortexdysgenesiswithwhitematterchangesduetomutationsinlaminina2 AT vishaldixit occipitalcortexdysgenesiswithwhitematterchangesduetomutationsinlaminina2 AT sedatisıkay occipitalcortexdysgenesiswithwhitematterchangesduetomutationsinlaminina2 AT mertkarakaya occipitalcortexdysgenesiswithwhitematterchangesduetomutationsinlaminina2 AT figenbaydan occipitalcortexdysgenesiswithwhitematterchangesduetomutationsinlaminina2 AT guldendiniz occipitalcortexdysgenesiswithwhitematterchangesduetomutationsinlaminina2 AT ipekpolat occipitalcortexdysgenesiswithwhitematterchangesduetomutationsinlaminina2 AT semrahızkurul occipitalcortexdysgenesiswithwhitematterchangesduetomutationsinlaminina2 AT sebahattincırak occipitalcortexdysgenesiswithwhitematterchangesduetomutationsinlaminina2 |