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Journals / Turkish Journal of Pediatrics / 2020 / Cilt: 62 - Sayı: 1

Dropped head related lamin A/C associated congenital muscular dystrophy case; previously defined as emery-dreifuss muscular dystrophy

Hande GAZATECİ TEKİN
Sabire Sanem YILMAZ
Hasan TEKGÜL
Sarenur GÖKBEN
Gül AKTAN
Pages
130–135
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

This mutation was previously reported as Emery-Dreifuss muscular dystrophy.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Dropped head syndrome can be seen in many neuromuscular diseases.
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Key Findings & Data: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.
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Conclusion & Impact:This mutation was previously reported as Emery-Dreifuss muscular dystrophy.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Özet

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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Cite This Article

TEKİN, H. G., YILMAZ, S. S., TEKGÜL, H., GÖKBEN, S., AKTAN, G. (2020). Dropped head related lamin A/C associated congenital muscular dystrophy case; previously defined as emery-dreifuss muscular dystrophy. Turkish Journal of Pediatrics, Cilt: 62 - Sayı: 1, 130–135. https://ajindex.com/articles/411831

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References (2)

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