Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes.
Neuromuscul Disord
; 15(8): 521-4, 2005 Aug.
Article
em En
| MEDLINE
| ID: mdl-15961312
ABSTRACT
Dropped head syndrome is characterized by severe weakness of neck extensor muscles with sparing of the flexors. It is a prominent sign in several neuromuscular conditions, but it may also be an isolated feature with uncertain aetiology. We report two children in whom prominent weakness of neck extensor muscles is associated with mutations in lamin A/C (LMNA) and selenoprotein N1 (SEPN1) genes, respectively. This report expands the underlying causes of the dropped head syndrome which may be the presenting feature of a congenital muscular dystrophy.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Laminas
/
Proteínas Musculares
/
Distrofias Musculares
/
Mutação
Limite:
Child
/
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Neuromuscul Disord
Assunto da revista:
NEUROLOGIA
Ano de publicação:
2005
Tipo de documento:
Article
País de afiliação:
Itália