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September 1, 1990

Assignment of the X‐linked torsion dystonia gene to Xq21 by linkage analysis

September 1990 issue
40 (9) 1438

Abstract

We performed linkage analysis of X-linked torsion dystonia (XLTD) in 7 Filipino families, studying DNA from a total of 36 family members (9 obligate carrier females, and 18 affected and 9 unaffected males). Application of 21 informative X chromosomal DNA sequences allowed assignment of the XLTD locus to the proximal long arm of the X chromosome (Xq21). A maximum LOD score of 3.06 at ±= 0.0 was obtained with DXYS2, previously assigned to Xq21.3.

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Published In

Neurology®
Volume 40Number 9September 1990
Pages: 1438
PubMed: 1975433

Publication History

Published online: September 1, 1990
Published in print: September 1990

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Affiliations & Disclosures

Kenneth G. Kupke, MD
From the Division of Genetics (Drs. Kupke and Müller) and Joint Program in Neonatology (Dr. Kupke), The Children's Hospital and Department of Pediatrics (Drs. Kupke and Müller), Harvard Medical School, Boston, MA; The Philippine Children's Medical Center (Lungsod Ng Kabataan) (Dr. Lee), Diliman, Quezon City, Republic of the Philippines.
Lillian V. Lee, MD
From the Division of Genetics (Drs. Kupke and Müller) and Joint Program in Neonatology (Dr. Kupke), The Children's Hospital and Department of Pediatrics (Drs. Kupke and Müller), Harvard Medical School, Boston, MA; The Philippine Children's Medical Center (Lungsod Ng Kabataan) (Dr. Lee), Diliman, Quezon City, Republic of the Philippines.
Ulrich Müller, MD, PhD
From the Division of Genetics (Drs. Kupke and Müller) and Joint Program in Neonatology (Dr. Kupke), The Children's Hospital and Department of Pediatrics (Drs. Kupke and Müller), Harvard Medical School, Boston, MA; The Philippine Children's Medical Center (Lungsod Ng Kabataan) (Dr. Lee), Diliman, Quezon City, Republic of the Philippines.

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Cited By
  1. Dystonia, Principles and Practice of Movement Disorders, (327-352.e18), (2021).https://doi.org/10.1016/B978-0-323-31071-0.00011-1
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  2. Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1 , Proceedings of the National Academy of Sciences, 114, 51, (2017).https://doi.org/10.1073/pnas.1712526114
    Crossref
  3. Bilateral Pallidal Deep Brain Stimulation for X-Linked Dystonia-Parkinsonism, World Neurosurgery, 82, 1-2, (241.e1-241.e4), (2014).https://doi.org/10.1016/j.wneu.2013.09.039
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  4. Genetic evaluation in hereditary dystonia, Handbook of Dystonia, (22-52), (2012).https://doi.org/10.3109/9781841848525.003
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  5. Dystonia, Principles and Practice of Movement Disorders, (259-292), (2011).https://doi.org/10.1016/B978-1-4377-2369-4.00012-3
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  6. Milestones in dystonia, Movement Disorders, 26, 6, (1106-1126), (2011).https://doi.org/10.1002/mds.23775
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  7. Genetic Evaluation in Primary Dystonia, Handbook of Dystonia, (21-44), (2010).https://doi.org/10.3109/9781420019988.003
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  8. Understanding XDP Through Imaging, Pathology, and Genetics, International Journal of Neuroscience, 121, sup1, (12-17), (2010).https://doi.org/10.3109/00207454.2010.526729
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  9. The Unique Phenomenology of Sex-Linked Dystonia Parkinsonism (XDP, DYT3, “Lubag”), International Journal of Neuroscience, 121, sup1, (3-11), (2010).https://doi.org/10.3109/00207454.2010.526728
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  10. X-Linked Dystonia Parkinsonism: Clinical Phenotype, Genetics and Therapeutics, Journal of Movement Disorders, 3, 2, (32-38), (2010).https://doi.org/10.14802/jmd.10009
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