Should we investigate mitochondrial disorders in progressive adult-onset undetermined ataxias?

BACKGROUND: Despite the broad development of next-generation sequencing approaches recently, such as whole-exome sequencing, diagnostic workup of adult-onset progressive cerebellar ataxias without remarkable family history and with negative genetic panel testing for SCAs remains a complex and expens...

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Detalles Bibliográficos
Autores principales: Pedroso, José Luiz, de Rezende Pinto, Wladimir Bocca Vieira, Barsottini, Orlando Graziani Povoas, Oliveira, Acary Souza Bulle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7444269/
https://www.ncbi.nlm.nih.gov/pubmed/32922825
http://dx.doi.org/10.1186/s40673-020-00122-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7444269/
https://www.ncbi.nlm.nih.gov/pubmed/32922825
http://dx.doi.org/10.1186/s40673-020-00122-0

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