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Dergiler / 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
Sayfa
130–135
DOI
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⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

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

📌 3 Maddede Bu Makale

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Amaç & Hipotez:Dropped head syndrome can be seen in many neuromuscular diseases.
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Temel Bulgular & Veri: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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Sonuç & Katkı:This mutation was previously reported as Emery-Dreifuss muscular dystrophy.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

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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Bu Makaleye Atıf Yap

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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Kaynakça (2)

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