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Mitochondrial DNA-encoded defects.
In: Neurogenetics for the Practitioner. 2024. 389-396 (Neurogenetics for the Practitioner ; 25)
Mitochondrial DNA (mtDNA)-related mitochondrial diseases are clinically heterogeneous, can occur at any age, and can manifest with a wide range of clinical symptoms. The complexity of mitochondrial disease necessitates clinical care and genetic and functional diagnostics at a dedicated center with the requisite expertise and intercollegial exchange.
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Publication type
Article: Edited volume or book chapter
Keywords
Cpeo ; Leigh Syndrome ; Lhon ; Melas ; Merrf ; Mitochondrial Dna ; Pearson Syndrome
Language
english
Publication Year
2024
HGF-reported in Year
2024
ISSN (print) / ISBN
[9780323994170, 9780323958592]
Book Volume Title
Neurogenetics for the Practitioner
Quellenangaben
Volume: 25,
Pages: 389-396
Institute(s)
Institute of Neurogenomics (ING)
POF-Topic(s)
30205 - Bioengineering and Digital Health
Research field(s)
Genetics and Epidemiology
PSP Element(s)
G-503200-001
Scopus ID
85198472050
Erfassungsdatum
2024-07-22