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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.
Author(s): Horvath R, Abicht A
Publication type: Article
Publication status: Published
Journal: Medizinische Genetik
Print publication date: 09/09/2012
ISSN (print): 0936-5931
ISSN (electronic): 1863-5490
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