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

Tekin H., Yilmaz S., TEKGÜL H., GÖKBEN S., AKTAN G.

TURKISH JOURNAL OF PEDIATRICS, cilt.62, sa.1, ss.130-135, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 62 Sayı: 1
  • Basım Tarihi: 2020
  • Doi Numarası: 10.24953/turkjped.2020.01.019
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.130-135
  • Anahtar Kelimeler: congenital muscular dystrophy, LMNA, dropped head
  • Dokuz Eylül Üniversitesi Adresli: Hayır

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.