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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Pubblicato in:Cerebellum Ataxias
Autori principali: Pedroso, José Luiz, de Rezende Pinto, Wladimir Bocca Vieira, Barsottini, Orlando Graziani Povoas, Oliveira, Acary Souza Bulle
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2020
Soggetti:
Case Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7444269/
https://ncbi.nlm.nih.gov/pubmed/32922825
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40673-020-00122-0
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