Dropped head related lamin A/C associated congenital muscular dystrophy case; previously defined as emerydreifuss muscular dystrophy
Makaleler > Tam Makale · 2020
Yazarlar: Hande Tekin, Sanem KESKİN YILMAZ, Hasan TEKGÜL, SARENUR GÖKBEN, GÜL AKTAN
The Turkish Journal of Pediatrics, SCI Expanded İndekslerine Giren Dergi, Uluslararası, Wos, 2020, cilt 62, ss 130-135
DOI: 10.24953/turkjped.2020.01.019
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.