Pseudodominance in Friedreich Ataxia—Impact of High Prevalence of Carriers and Intrafamilial Clinical Variation

BACKGROUND: Friedreich ataxia (FA) is the most common form of autosomal recessive (AR) ataxia. It is a rare disease, but carriers are frequent (1/100). Pseudodominance in FA has seldomly been reported; it may pose additional challenges for diagnosis. CASES: A family with two consecutive generations...

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Detalles Bibliográficos
Autores principales: Malaquias, Maria João, Oliveira, Jorge, Santos, Manuela, Brandão, Ana Filipa, Sardoeira, Ana, Sequeiros, Jorge, Barros, José, Damásio, Joana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2023
Materias:
Case Series with Literature Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10105111/
https://www.ncbi.nlm.nih.gov/pubmed/37070055
http://dx.doi.org/10.1002/mdc3.13694

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10105111/
https://www.ncbi.nlm.nih.gov/pubmed/37070055
http://dx.doi.org/10.1002/mdc3.13694

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