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Mitochondriale Erkrankungen

Lookup NU author(s): Professor Rita Horvath


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As outlined in other articles of this issue mitochondrial medicine is a complex area in clinical genetics. Due to the wide variability of clinical presentation in both pediatric and adult patients there are frequent constellations of symptoms that may suggest an underlying mitochondrial disorder. This is a challenge in genetic counseling because basically all patterns of inheritance have to be taken into account-including maternal transmission-but a straightforward genetic testing to confirm or exclude the suggested diagnosis is hampered by the immense genetic heterogeneity of the mitochondrial disease spectrum. This article focuses on a diagnostic strategy and specific aspects of genetic counseling in mitochondrial disorders.

Publication metadata

Author(s): Horvath R, Abicht A

Publication type: Article

Publication status: Published

Journal: Medizinische Genetik

Year: 2012

Volume: 24

Issue: 3

Pages: 176-182

Print publication date: 09/09/2012

ISSN (print): 0936-5931

ISSN (electronic): 1863-5490

Publisher: Springer


DOI: 10.1007/s11825-012-0339-7


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