Dropped head related lamin A/C associated congenital muscular dystrophy case; previously defined as emerydreifuss muscular dystrophy
Dropped head syndrome can be seen in many neuromuscular diseases. However, there are very few diseases in which neck extensors are weak among neuromuscular diseases. A 7 years old boy who had weakness of the neck extensor muscles, creatinine kinase elevation and dystrophy findings in biopsy f...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2020-02-01
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| Series: | The Turkish Journal of Pediatrics |
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| Online Access: | https://turkjpediatr.org/article/view/421 |
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| author | Hande Tekin Sanem Yılmaz Hasan Tekgül Sarenur Gökben Gül Aktan |
| author_facet | Hande Tekin Sanem Yılmaz Hasan Tekgül Sarenur Gökben Gül Aktan |
| author_sort | Hande Tekin |
| collection | DOAJ |
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Dropped head syndrome can be seen in many neuromuscular diseases. However, there are very few diseases in which neck extensors are weak among neuromuscular diseases. A 7 years old boy who had weakness of the neck extensor muscles, creatinine kinase elevation and dystrophy findings in biopsy followed up with the preliminary diagnosis of muscular dystrophy is presented. We detected p.N456K (c.1368C > A) heterozygote mutation by the gene sequencing in the Lamin A/C assocıated (LMNA) gene. This mutation was previously reported as Emery-Dreifuss muscular dystrophy.
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| format | Article |
| id | doaj-art-94c3fada4dce4caf84c30bf9685586ae |
| institution | OA Journals |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2020-02-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-94c3fada4dce4caf84c30bf9685586ae2025-08-20T02:01:47ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212020-02-0162110.24953/turkjped.2020.01.019Dropped head related lamin A/C associated congenital muscular dystrophy case; previously defined as emerydreifuss muscular dystrophyHande Tekin0Sanem Yılmaz1Hasan Tekgül2Sarenur Gökben3Gül Aktan4Department of Pediatric Neurology, Çiğli Treatment Hospital, İzmir, Turkey.Division of Child Neurology, Department of Pediatrics, Ege University Faculty of Medicine, İzmir, Turkey.Division of Child Neurology, Department of Pediatrics, Ege University Faculty of Medicine, İzmir, Turkey.Division of Child Neurology, Department of Pediatrics, Ege University Faculty of Medicine, İzmir, Turkey.Division of Child Neurology, Department of Pediatrics, Ege University Faculty of Medicine, İzmir, Turkey. Dropped head syndrome can be seen in many neuromuscular diseases. However, there are very few diseases in which neck extensors are weak among neuromuscular diseases. A 7 years old boy who had weakness of the neck extensor muscles, creatinine kinase elevation and dystrophy findings in biopsy followed up with the preliminary diagnosis of muscular dystrophy is presented. We detected p.N456K (c.1368C > A) heterozygote mutation by the gene sequencing in the Lamin A/C assocıated (LMNA) gene. This mutation was previously reported as Emery-Dreifuss muscular dystrophy. https://turkjpediatr.org/article/view/421LMNAcongenital muscular dystrophydropped head |
| spellingShingle | Hande Tekin Sanem Yılmaz Hasan Tekgül Sarenur Gökben Gül Aktan Dropped head related lamin A/C associated congenital muscular dystrophy case; previously defined as emerydreifuss muscular dystrophy The Turkish Journal of Pediatrics LMNA congenital muscular dystrophy dropped head |
| title | Dropped head related lamin A/C associated congenital muscular dystrophy case; previously defined as emerydreifuss muscular dystrophy |
| title_full | Dropped head related lamin A/C associated congenital muscular dystrophy case; previously defined as emerydreifuss muscular dystrophy |
| title_fullStr | Dropped head related lamin A/C associated congenital muscular dystrophy case; previously defined as emerydreifuss muscular dystrophy |
| title_full_unstemmed | Dropped head related lamin A/C associated congenital muscular dystrophy case; previously defined as emerydreifuss muscular dystrophy |
| title_short | Dropped head related lamin A/C associated congenital muscular dystrophy case; previously defined as emerydreifuss muscular dystrophy |
| title_sort | dropped head related lamin a c associated congenital muscular dystrophy case previously defined as emerydreifuss muscular dystrophy |
| topic | LMNA congenital muscular dystrophy dropped head |
| url | https://turkjpediatr.org/article/view/421 |
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