Evidence for locus heterogeneity in autosomal dominant torison dystonia

Journal Article · Thu Dec 31 23:00:00 EST 1992 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1993.1003· OSTI ID:7063367

Ahmad, F; Davis, M B; Waddy, H M; Marsden, C D; Harding, A E ^[1]; Oley, C A ^[2]

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1. University Dept. of Clinical Neurology, London (United Kingdom)
2. Mater Misericordiae Mothers Hospital, Brisbane (Australia)

Idiopathic torsion dystonia (ITD) is most commonly an autosomal dominant disorder with reduced penetrance and variable expression. A locus on the distal long arm of chromosome 9 has been identified in one large non-Jewish and several Jewish families in the United States. Linkage analysis in a large Australian kindred with ITD, also containing two patients with Wilson's disease, excludes a locus for ITD in chromosome 9q34 or the region of chromosome 13 containing the Wilson disease gene. This study provides evidence for locus heterogeneity in autosomal dominant ITD and also give additional information on gene order in chromosome 9q. 19 refs., 3 figs., 1 tab.

• OSTI ID: 7063367
• Journal Information: Genomics; (United States), Journal Name: Genomics; (United States) Vol. 15:1; ISSN 0888-7543; ISSN GNMCEP
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
BIOLOGICAL VARIABILITY
DISEASES
GENES
GENETIC MAPPING
GENETIC VARIABILITY
MAPPING
MUSCLES
NERVOUS SYSTEM DISEASES
TORSION