Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing
Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing
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Publisher
England: Nature Publishing Group
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Language
English
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Publisher
England: Nature Publishing Group
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Scope and Contents
Contents
Several neurological disorders, such as myotonic dystrophy are caused by expansions of short tandem repeats (STRs) which can be difficult to detect by molecular tools. Methodological advances have made repeat expansion (RE) detection with whole genome sequencing (WGS) feasible. We recruited a multi-generational family (family A) ascertained for gen...
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Full title
Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9823003
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9823003
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-022-01166-y
