Association Between Loss of Dp140 and Cognitive Impairment in Duchenne and Becker Dystrophies
The presence of variable degrees of non progressive cognitive impairment is recognized as a clinical feature of patients with Duchenne and Becker muscular dystrophies (DMD and BMD), but its pathogenesis still remains a matter of debate. A number of findings have proved that rearrangements located in...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Sciendo
2013-06-01
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| Series: | Balkan Journal of Medical Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.2478/bjmg-2013-0014 |
| _version_ | 1797718674938789888 |
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| author | Chamova T Guergueltcheva V Raycheva M Todorov T Genova J Bichev S Bojinova V Mitev V Tournev I Todorova A |
| author_facet | Chamova T Guergueltcheva V Raycheva M Todorov T Genova J Bichev S Bojinova V Mitev V Tournev I Todorova A |
| author_sort | Chamova T |
| collection | DOAJ |
| description | The presence of variable degrees of non progressive cognitive impairment is recognized as a clinical feature of patients with Duchenne and Becker muscular dystrophies (DMD and BMD), but its pathogenesis still remains a matter of debate. A number of findings have proved that rearrangements located in the second part of the dystrophin (DMD) gene seem to be preferentially associated with cognitive impairment. Dp140 is a distal dystrophin isoform, mainly expressed during fetal brain development, whose role for neuropsychological functioning was suggested. |
| first_indexed | 2024-03-12T08:53:50Z |
| format | Article |
| id | doaj.art-6d9cc73939ca4c08935d43eb1b40a660 |
| institution | Directory Open Access Journal |
| issn | 1311-0160 |
| language | English |
| last_indexed | 2024-03-12T08:53:50Z |
| publishDate | 2013-06-01 |
| publisher | Sciendo |
| record_format | Article |
| series | Balkan Journal of Medical Genetics |
| spelling | doaj.art-6d9cc73939ca4c08935d43eb1b40a6602023-09-02T16:10:18ZengSciendoBalkan Journal of Medical Genetics1311-01602013-06-01161212910.2478/bjmg-2013-0014Association Between Loss of Dp140 and Cognitive Impairment in Duchenne and Becker DystrophiesChamova T0Guergueltcheva V1Raycheva M2Todorov T3Genova J4Bichev S5Bojinova V6Mitev V7Tournev I8Todorova A9Clinic of Neurology, University Hospital “Alexandrovska”, 1 Georgi Sofiiski str., Sofia 1431, BulgariaClinic of Neurology, University Hospital “Alexandrovska,” Sofia, BulgariaClinic of Neurology, University Hospital “Alexandrovska,” Sofia, BulgariaGenetic Medico-Diagnostic Laboratory “Genica,” Sofia, BulgariaGenetic Medico-Diagnostic Laboratory “Genica,” Sofia, BulgariaNational Genetics Laboratory, Molecular Medicine Center, Sofia Medical University, Sofia, BulgariaClinic of Child Neurology, University Hospital of Neurology and Psychiatry Sv. Naum, Sofia, BulgariaDepartment of Medical Chemistry and Biochemistry, Sofia Medical University, Sofia, BulgariaClinic of Neurology, University Hospital “Alexandrovska,” Sofia, BulgariaGenetic Medico-Diagnostic Laboratory “Genica,” Sofia, BulgariaThe presence of variable degrees of non progressive cognitive impairment is recognized as a clinical feature of patients with Duchenne and Becker muscular dystrophies (DMD and BMD), but its pathogenesis still remains a matter of debate. A number of findings have proved that rearrangements located in the second part of the dystrophin (DMD) gene seem to be preferentially associated with cognitive impairment. Dp140 is a distal dystrophin isoform, mainly expressed during fetal brain development, whose role for neuropsychological functioning was suggested.https://doi.org/10.2478/bjmg-2013-0014cognitive impairmentduchenne muscular dystrophy (dmd)becker muscular dystrophy (bmd) dystrophin (dmd) geneintermediate muscular dystrophy (imd)dp140 isoformdystrophinopathies |
| spellingShingle | Chamova T Guergueltcheva V Raycheva M Todorov T Genova J Bichev S Bojinova V Mitev V Tournev I Todorova A Association Between Loss of Dp140 and Cognitive Impairment in Duchenne and Becker Dystrophies Balkan Journal of Medical Genetics cognitive impairment duchenne muscular dystrophy (dmd) becker muscular dystrophy (bmd) dystrophin (dmd) gene intermediate muscular dystrophy (imd) dp140 isoform dystrophinopathies |
| title | Association Between Loss of Dp140 and Cognitive Impairment in Duchenne and Becker Dystrophies |
| title_full | Association Between Loss of Dp140 and Cognitive Impairment in Duchenne and Becker Dystrophies |
| title_fullStr | Association Between Loss of Dp140 and Cognitive Impairment in Duchenne and Becker Dystrophies |
| title_full_unstemmed | Association Between Loss of Dp140 and Cognitive Impairment in Duchenne and Becker Dystrophies |
| title_short | Association Between Loss of Dp140 and Cognitive Impairment in Duchenne and Becker Dystrophies |
| title_sort | association between loss of dp140 and cognitive impairment in duchenne and becker dystrophies |
| topic | cognitive impairment duchenne muscular dystrophy (dmd) becker muscular dystrophy (bmd) dystrophin (dmd) gene intermediate muscular dystrophy (imd) dp140 isoform dystrophinopathies |
| url | https://doi.org/10.2478/bjmg-2013-0014 |
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