TY - JOUR
T1 - A Klinefelter patient with an additional mitochondrial mutation: Implications for genotype-driven treatment and mitochondrial mutational load in different tissues and family members
AU - Dulovic, Marija
AU - Schäffer, Eva
AU - Leypoldt, Frank
AU - Balck, Alexander
AU - Schaake, Susen
AU - Hinrichs, Frauke
AU - Kirchner, Henriette
AU - Brüggemann, Norbert
AU - Berg, Daniela
AU - Lohmann, Katja
PY - 2018/9/1
Y1 - 2018/9/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85053778364&partnerID=8YFLogxK
U2 - 10.1016/j.parkreldis.2018.04.001
DO - 10.1016/j.parkreldis.2018.04.001
M3 - Letters
C2 - 29650490
AN - SCOPUS:85053778364
SN - 1353-8020
VL - 54
SP - 116
EP - 118
JO - Parkinsonism and Related Disorders
JF - Parkinsonism and Related Disorders
ER -
