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Pan Afr Med J ; 38: 162, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33995769

RESUMO

Spinocerebellar ataxia type 7 (SCA7) is a rare autosomal dominant neurodegenerative disease. Its clinical presentation is a progressive cerebellar ataxia associated with cone and retinal dystrophy. The CAG repeat expansion in the ataxin-7 gene (ATXN7) causes spinocerebellar ataxia type 7 - a mutation that results in the degeneration of the brain stem cells, retina and cerebellum. We report in this study the clinical and genetic features of a new Moroccan family of SCA7, from the South of Morocco. We performed the molecular genetic testing to confirm the diagnosis of SCA7. The objective of this study is to report a new Moroccan case of SCA7 and to illustrate the role of the geneticist in the diagnosis, management and development of genetic counseling of SCA7 disease.


Assuntos
Ataxina-7/genética , Ataxias Espinocerebelares/diagnóstico , Adolescente , Adulto , Feminino , Testes Genéticos , Humanos , Masculino , Marrocos , Mutação , Ataxias Espinocerebelares/genética , Ataxias Espinocerebelares/fisiopatologia , Adulto Jovem
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