FMR1 premutation with Prader-Willi phenotype and fragile X-associated tremor/ataxia syndrome.
Clin Case Rep
; 5(5): 625-629, 2017 05.
Article
en En
| MEDLINE
| ID: mdl-28469864
ABSTRACT
This is a report of FMR1 premutation with Prader-Willi phenotype (PWP) and FXTAS. Although the PWP is common in fragile X syndrome (FXS), it has never been described in someone with the premutation. The patient presented intranuclear inclusions, severe obesity, hyperphagia, and ADHD symptoms, typical of the PWP in FXS. In addition, the autopsy revealed multiple architectural cortical abnormalities.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Tipo de estudio:
Risk_factors_studies
Idioma:
En
Revista:
Clin Case Rep
Año:
2017
Tipo del documento:
Article