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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2020
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| Materias: | |
| 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 |