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4.
Parkinsonism Relat Disord ; 9(5): 277-9, 2003 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-12781594

RESUMO

Highly variable phenotype expression has long been recognized in DYT1 carrier patients. We report here an Ashkenazi-Jewish woman who carried a DYT1 mutation and developed a predominant unilateral myoclonic-dystonia (MD) displaying a fluctuating course. The present case is the second supporting the variability of DYT1 phenotype and further illustrates its ability to mimic the MD syndrome.


Assuntos
Proteínas de Transporte/genética , Distonia/genética , Chaperonas Moleculares , Mioclonia/genética , Feminino , Humanos , Pessoa de Meia-Idade , Linhagem , Fenótipo
6.
Handb Clin Neurol ; 84: 399-416, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-18808960
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