Reader Response: Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis. (3rd January 2023)
- Record Type:
- Journal Article
- Title:
- Reader Response: Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis. (3rd January 2023)
- Main Title:
- Reader Response: Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis
- Authors:
- Schon, Katherine
Chinnery, Patrick - Abstract:
- Abstract : We were interested to read this study, in which the authors applied a "genomics first" approach in 242 adult patients. 1 They identified 3 patients from 2 families with an adult-onset peroxisomal disorder, alpha-methylacyl-CoA racemase deficiency. This condition was identified in 3 families with suspected mitochondrial disorders in the 100, 000 Genomes Project and 1 patient in the whole-exome sequencing study by Theunissen et al. 2, 3
- Is Part Of:
- Neurology. Volume 100:Number 1(2023)
- Journal:
- Neurology
- Issue:
- Volume 100:Number 1(2023)
- Issue Display:
- Volume 100, Issue 1 (2023)
- Year:
- 2023
- Volume:
- 100
- Issue:
- 1
- Issue Sort Value:
- 2023-0100-0001-0000
- Page Start:
- 49
- Page End:
- 50
- Publication Date:
- 2023-01-03
- Subjects:
- Neurology -- Periodicals
Neurology -- Periodicals
Neurologie -- Périodiques
616.8 - Journal URLs:
- http://www.mdconsult.com/public/search?search_type=journal&j_sort=pub_date&j_issn=0028-3878 ↗
http://www.mdconsult.com/about/journallist/192093418-5/about0nz0.html ↗
http://www.neurology.org ↗
http://journals.lww.com ↗ - DOI:
- 10.1212/WNL.0000000000201676 ↗
- Languages:
- English
- ISSNs:
- 0028-3878
- Deposit Type:
- Legaldeposit
- View Content:
- Available online (eLD content is only available in our Reading Rooms) ↗
- Physical Locations:
- British Library DSC - 6081.500000
British Library DSC - BLDSS-3PM
British Library STI - ELD Digital store - Ingest File:
- 24844.xml