Muscle pain as the only presenting symptom in a girl with dystrophinopathy.
Pediatr Neurol
; 38(1): 64-6, 2008 Jan.
Article
en En
| MEDLINE
| ID: mdl-18054699
ABSTRACT
We present a family with dystrophinopathy in whom the proband is a female aged 4.5 years, who presented with exertional muscle pain without weakness. Familial analysis identified a maternal nephew of the proband who demonstrated a similar clinical picture, with asymptomatic cardiomyopathy. A DNA analysis revealed an in-frame deletion in the proximal part of domain II of the dystrophin gene. Extensive familial analysis indicated that the asymptomatic maternal grandfather transmitted the deletion. This is the first report of a young female patient with exertional muscle pain as the only early presenting symptom of dystrophinopathy.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Dolor
/
Distrofina
/
Músculo Esquelético
/
Distrofia Muscular de Duchenne
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Adolescent
/
Adult
/
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Pediatr Neurol
Asunto de la revista:
NEUROLOGIA
/
PEDIATRIA
Año:
2008
Tipo del documento:
Article
País de afiliación:
Bélgica