An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics

BACKGROUND: Short tandem repeat (STR) expansion disorders are an important cause of human neurological disease. They have an established role in more than 40 different phenotypes including the myotonic dystrophies, Fragile X syndrome, Huntington’s disease, the hereditary cerebellar ataxias, amyotrop...

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Bibliographic Details
Published in:Acta Neuropathol Commun
Main Authors: Chintalaphani, Sanjog R., Pineda, Sandy S., Deveson, Ira W., Kumar, Kishore R.
Format: Artigo
Language:Inglês
Published: BioMed Central 2021
Subjects:
Review
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC8145836/
https://ncbi.nlm.nih.gov/pubmed/34034831
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40478-021-01201-x
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