Home
Deutsch
Advanced Search
Browse by ...
Publication overview
Contact persons
Help
Publ. Version/Full Text
DOI
PMC
 |
Open Access Gold (Paid Option) |
|
as soon as is submitted to ZB.
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort.
Clin. Genet., DOI: 10.1111/cge.14061 (2021)
Neurological symptoms are frequent and often a leading feature of childhood-onset mitochondrial disorders (MD) but the exact incidence of MD in unselected neuropediatric patients is unknown. Their early detection is desirable due to a potentially rapid clinical decline and the availability of management options. In 491 children with neurological symptoms a comprehensive diagnostic work-up including exome sequencing was performed. The success rate in terms of a molecular genetic diagnosis within our cohort was 51%. Disease-causing variants in a mitochondria-associated gene were detected in 12% of solved cases. In order to facilitate the clinical identification of MDs within neuropediatric cohorts, we have created an easy-to-use bedside-tool, the MDC-NP. In our cohort, the MDC-NP predicted disease conditions related to MDs with a sensitivity of 0.83, and a specificity of 0.96.
Altmetric
Additional Metrics?
Edit extra informations
Login
Publication type
Article: Journal article
Document type
Scientific Article
Keywords
Child Development Disorders ; Early Diagnosis ; Medical Genetics ; Mitochondria ; Whole Exome Sequencing; Diagnostic-criteria; Genetics; Disease
ISSN (print) / ISBN
0009-9163
e-ISSN
1399-0004
Journal
Clinical Genetics
Publisher
Wiley
Publishing Place
111 River St, Hoboken 07030-5774, Nj Usa
Non-patent literature
Publications
Reviewing status
Peer reviewed
Grants
German Bundesministerium fur Bildung und Forschung (mitoNET)
E-Rare
E-Rare