A Klinefelter patient with an additional mitochondrial mutation: Implications for genotype-driven treatment and mitochondrial mutational load in different tissues and family members

Marija Dulovic, Eva Schäffer, Frank Leypoldt, Alexander Balck, Susen Schaake, Frauke Hinrichs, Henriette Kirchner, Norbert Brüggemann, Daniela Berg, Katja Lohmann*

*Korrespondierende/r Autor/-in für diese Arbeit

Abstract

Many genetic disorders are clinically heterogeneous [1] and thus may be challenging to be diagnosed solely based on the clinical examination. In addition, if two or more genetic disorders are present in the same patient, the phenotypic presentation will be an additive result of both underlying disorders [2]. The scenario gets even more complicated when mitochondrial DNA (mtDNA) mutations play a role, since mtDNA represents high-copy-number, extra-nuclear genetic material exclusively transmitted through the mother.
OriginalspracheEnglisch
ZeitschriftParkinsonism and Related Disorders
Jahrgang54
Seiten (von - bis)116-118
Seitenumfang3
ISSN1353-8020
DOIs
PublikationsstatusVeröffentlicht - 01.09.2018

Strategische Forschungsbereiche und Zentren

  • Querschnittsbereich: Medizinische Genetik

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