Dropped head related lamin A/C associated congenital muscular dystrophy case; previously defined as emery-dreifuss muscular dystrophy
Küçük Resim Yok
Tarih
2020
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Turkish J Pediatrics
Erişim Hakkı
info:eu-repo/semantics/openAccess
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 associated (LMNA) gene. This mutation was previously reported as Emery-Dreifuss muscular dystrophy.
Açıklama
Anahtar Kelimeler
congenital muscular dystrophy, LMNA, dropped head
Kaynak
Turkish Journal of Pediatrics
WoS Q Değeri
Q4
Scopus Q Değeri
Q3
Cilt
62
Sayı
1
