ε-sarcoglycan mutations found in combination with other dystonia gene mutations

Annals of Neurology

Volumn 52, Issue 5, 2002, Pages 675-679

  Klein, Christine ^a   Liu, Liu ^b   Doheny, Dana ^c   Kock, Norman ^a   Müller, Birgitt ^a   De Carvalho Aguiar, Patricia ^b,d   Leung, Joanne ^e   De Leon, Deborah ^f   Bressman, Susan B ^f   Silverman, Jeremy ^c   Smith, Christopher ^c   Danisi, Fabio ^c   Morrison, Chris ^c   Walker, Ruth H ^c,g   Velickovic, Miodrag ^c   Schwinger, Eberhard ^a   Kramer, Patricia L ^h   Breakefield, Xandra O ^e   Brin, Mitchell F ^c   Ozelius, Laurie J ^b  

^a UNIVERSITY OF LÜBECK   (Germany)

^b ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^c MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^d FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^e MASSACHUSETTS GENERAL HOSPITAL   (United States)

^f BETH ISRAEL MEDICAL CENTER   (United States)

^g VETERANS AFFAIRS MEDICAL CENTER   (United States)

^h OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; DNA SEQUENCE; DYSTONIA; FAMILY; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; HUMAN; MISSENSE MUTATION; MOLECULAR MECHANICS; MOTOR DYSFUNCTION; MUTATIONAL ANALYSIS; MYOCLONUS; PEDIGREE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; GENETICS; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE;

CARRIER PROTEIN; CHAPERONE; CYTOSKELETON PROTEIN; DOPAMINE 2 RECEPTOR; DYT1 PROTEIN, HUMAN; MEMBRANE PROTEIN; SARCOGLYCAN;

BASE SEQUENCE; CARRIER PROTEINS; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; DYSTONIA; HUMANS; MEMBRANE GLYCOPROTEINS; MOLECULAR CHAPERONES; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; RECEPTORS, DOPAMINE D2; SARCOGLYCANS;

EID: 0036826889     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10358     Document Type: Article

References (19)

1. Gasser T. Inherited myoclonus-dystonia syndrome. Adv Neurol 1998;7:325-334.
2. Nygaard TG, Raymond D, Chen C, et al. Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31. Ann Neurol 1999;46:794-798.
3. Klein C, Schilling K, Saunders-Pullman RJ, et al. A major locus for myoclonus-dystonia maps to chromosome 7q in eight families. Am J Hum Genet 2000;67:1314-1319.
4. Vidailhet M, Tassin J, Durif F, et al. A major locus for several phenotypes of myoclonus-dystonia on chromosome 7q. Neurology 2001;56:1213-1216.
5. Asmus F, Zimprich A, Naumann M, et al. Inherited myoclonus-dystonia syndrome: Narrowing the 7q21-q31 locus in German families. Ann Neurol 2001;49:121-124.
6. Zimprich A, Grabowski M, Asmus F, et al. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet 2001;29:66-69.
7. Klein C, Brin MF, Kramer P, et al. Association of a missense change in the D2 dopamine receptor with myoclonus dystonia. Proc Nad Acad Sci USA 1999;96:5173-5176.
8. Leung JC, Klein C, Friedman J, et al. Novel mutation in the Tor1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. Neurogenetics 2001;3:133-143.
9. Liu LA, Engvall E. Sarcoglycan isoforms in skeletal muscle. J Biol Chem 1999;274:38171-38176.
10. Dürr A, Tassin J, Vidailhet M, et al. D2 dopamine receptor gene in myoclonic dystonia and essential myoclonus. Ann Neurol 2000;48:127-128.
11. Grimes DA, Bulman D, George-Hyslop PS, et al. Inherited myoclonus-dystonia: Evidence supporting genetic heterogeneity. Mov Disord 2001;16:106-110.
12. Klein C, Gurvich N, Sena-Esteves M, et al. Evaluation of the role of the D2 dopamine receptor in myoclonus dystonia. Ann Neurol 2000;47:369-373.
13. Picetti R, Saiardi A, Abdel Samad T, et al. Dopamine D2 receptors in signal transduction and behavior. Crit Rev Neurobiol 1997;11:121-142.
14. Ozelius LJ, Hewett JW, Page CE, et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet 1997;17:40-48.
15. Kajiwara K, Berson EL, Dryja TP. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science 1994;264:1604-1608.
16. Angrist M, Bolk S, Halushka M, et al. Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. Nat Genet 1996;14:341-344.
17. Svensson P-J, Anvret M, Molander M-L, Nordenskjöld A. Phenotypic variation in a family with mutations in two Hirschsprung-related genes (RET and endothelin receptor B). Hum Genet 1998;103:145-148.
18. Dryja TP, Hahn LB, Kajiwara K, Berson EL. Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa. Invest Ophthalmol Vis Sci 1997;38:1972-1982.
19. Parisi MA, Kapur RP. Genetics of Hirschsprung disease. Curr Opin Pediatr 2000;12:610-617.