Novel mutation in a patient with Charlevoix-Saguenay ataxia-a very rare disease with classical symptoms.

Klimkowicz-Mrowiec, Aleksandra; Dziubek, Anna; Sado, Malgorzata; Karpinski, Marek

Klimkowicz-Mrowiec, Aleksandra; Dziubek, Anna; Sado, Malgorzata; Karpinski, Marek.

Afiliação

Klimkowicz-Mrowiec A; Department of Internal Medicine and Gerontology, Jagiellonian University Medical College, Faculty of Medicine, Jakubowskiego 2, 30-688, Krakow, Poland. Aleksandra.Klimkowicz@mp.pl.
Dziubek A; Haematological Diagnostics and Genetics Unit, University Hospital, Krakow, Poland.
Sado M; Haematological Diagnostics and Genetics Unit, University Hospital, Krakow, Poland.
Karpinski M; Haematological Diagnostics and Genetics Unit, University Hospital, Krakow, Poland.

Neurol Sci ; 43(1): 723-724, 2022 01.

Article em En | MEDLINE | ID: mdl-34689254

Assuntos

Proteínas de Choque Térmico/genética; Ataxias Espinocerebelares; Adulto; Ataxia/genética; Feminino; Humanos; Espasticidade Muscular; Mutação; Doenças Raras; Ataxias Espinocerebelares/genética

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxias Espinocerebelares / Proteínas de Choque Térmico Tipo de estudo: Diagnostic_studies Limite: Adult / Female / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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