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Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ  Ortal Barel, Zamir Shorer, Hagit Flusser, Rivka Ofir, Ginat Narkis,

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Presentation on theme: "Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ  Ortal Barel, Zamir Shorer, Hagit Flusser, Rivka Ofir, Ginat Narkis,"— Presentation transcript:

1 Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ 
Ortal Barel, Zamir Shorer, Hagit Flusser, Rivka Ofir, Ginat Narkis, Gal Finer, Hanah Shalev, Ahmad Nasasra, Ann Saada, Ohad S. Birk  The American Journal of Human Genetics  Volume 82, Issue 5, Pages (May 2008) DOI: /j.ajhg Copyright © 2008 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Pedigree of Affected Israeli-Bedouin Kindred
Solid and open symbols represent affected and unaffected individuals, respectively. All affected individuals are offspring of consanguineous marriages. The numbers denote individuals whose DNA samples were analyzed. (A), (B), and (C) are branches of a single extended kindred, remotely related (not first or second degree). The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

3 Figure 2 MRI Studies of Affected Individual 133 at Age 2 Years
Bilateral symmetrical abnormal findings in the basal ganglia, with increased density in the putamen and decreased density and size of the caudate and globus pallidum nuclei. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

4 Figure 3 Defining the Disease-Associated Locus
(A) Partial pedigree of the large Israeli-Bedouin kindred. The affected haplotype is shaded. Physical distances between the markers are shown. (B and C) Fine mapping of the 5q31 locus. In (B), the disease-associated haplotype is boxed. Minimal homozygosity locus associated with the disease is defined between the markers D5S2057 and D5S2497 (gray box). (C) shows a schematic presentation of the defined locus. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

5 Figure 4 Analysis of the C208T Mutation in Exon 2 of UQCRQ
Sequence analysis is shown for an affected individual (A), an obligatory carrier (B), and an unaffected individual (C). The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

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