Dropped head related lamin A/C associated congenital muscular dystrophy case; previously defined as emerydreifuss muscular dystrophy.
Turk J Pediatr
; 62(1): 130-135, 2020.
Article
em En
| MEDLINE
| ID: mdl-32253878
ABSTRACT
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Distrofia Muscular de Emery-Dreifuss
/
Distrofias Musculares
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Limite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
Turk J Pediatr
Ano de publicação:
2020
Tipo de documento:
Article