Coinheritance of Noonan syndrome and Becker muscular dystrophy.
Neuromuscul Disord
; 20(1): 61-3, 2010 Jan.
Article
en En
| MEDLINE
| ID: mdl-19875288
ABSTRACT
We describe for the first time a case of a 9-year old boy with co-existence of dystrophinopathy and Noonan syndrome (NS). Although the patient has a severe muscular clinical phenotype, consistent with Duchenne muscular dystrophy (DMD), the diagnosis of Becker muscular dystrophy (BMD) was proposed based on family history (brother with BMD) and confirmed by muscle immunohistochemistry, and molecular study shown an in-frame DMD gene mutation. The patient also fulfilled the clinical criteria of NS and he harbors a hotspot mutation on PTPN11 gene. This genetic combination may be an explanation for the variability of clinical expression in the family.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Distrofia Muscular de Duchenne
/
Síndrome de Noonan
Tipo de estudio:
Diagnostic_studies
Límite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
Neuromuscul Disord
Asunto de la revista:
NEUROLOGIA
Año:
2010
Tipo del documento:
Article