Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease

Annals of Neurology

Volumn 46, Issue 1, 1999, Pages 115-118

  Blumen, Sergiu C ^a   Brais, Bernard ^b,c   Korczyn, Amos D ^d,e   Medinsky, Susan ^c   Chapman, Joab ^d   Asherov, Alexander ^d   Nisipeanu, Puiu ^a   Codére, François ^f   Bouchard, Jean Pierre ^g   Fardeau, Michel ^h   Tomé, Fernando M S ^h   Rouleau, Guy A ^c  

^a HILLEL YAFFE MEDICAL CENTER   (Israel)

^b CENTRE HOSPITALIER DE L UNIVERSITÉ DE MONTRÉAL   (Canada)

^c MONTREAL GENERAL HOSPITAL   (Canada)

^d TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^e TEL AVIV UNIVERSITY   (Israel)

^f ROYAL VICTORIA HOSPITAL   (Canada)

^g LAVAL UNIVERSITY   (Canada)

^h PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CELL NUCLEUS INCLUSION BODY; CLINICAL ARTICLE; DISEASE SEVERITY; DYSPHAGIA; ELECTRON MICROSCOPY; GENETIC HETEROGENEITY; HOMOZYGOSITY; HUMAN; OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPHTHALMOPLEGIA; PRIORITY JOURNAL; PTOSIS;

EID: 0033009388     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(199907)46:1<115::AID-ANA17>3.0.CO;2-O     Document Type: Article

References (19)

1. Bouchard J-P, Gagné F, Tomé FMS, Brunet D. Nuclear inclusions in Oculopharyngeal muscular dystrophy in Québec. Can J Neurol Sci 1989;16:446-450
2. Blumen SC, Nisipeanu P, Sadeh M, et al. Clinical features of oculopharyngeal muscular dystrophy among Bukhara Jews. Neuromuscul Disord 1993;3:575-577
3. Tomé FMS, Fardeau M. Oculopharyngeal muscular dystrophy. In: Engel AG, Franzini-Armstrong C, eds. Myology, vol 2. New York: McGraw-Hill, 1994:1233-1245
4. Tomé FMS, Fardeau M. Nuclear inclusions in Oculopharyngeal muscular dystrophy. Acta Neuropath (Berl) 1980;49:85-87
5. Blumen SC, Sadeh M, Korczyn AD, et al. Intranuclear inclusions in Oculopharyngeal muscular dystrophy among Bukhara Jews. Neurology 1996;46:1324-1328
6. Brais B, Xie Y-G, Sanson M, et al. The Oculopharyngeal muscular dystrophy locus maps to the region of the cardiac α and β myosin heavy chain genes on chromosome 14q 11.2-q13. Hum Mol Genet 1995;4:429-434
7. Brais B, Bouchard J-P, Xie Y-G, et al. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet 1998;18:164-167
8. Sambrook J, Fritsch EF, Maniatis T. Molecular cloning: a laboratory manual. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory, 1989
9. Brais B, Bouchard J-P, Ya-Gang X, et al. Using the full power of linkage analysis in 11 French Canadian families to fine map the oculopharyngeal muscular dystrophy gene. Neuromuscul Disord 1997;7(suppl):S70-S75
10. Bouchard J-P, Brais B, Brunet D, et al. Recent studies on oculopharyngeal muscular dystrophy in Quebec. Neuromuscul Disord 1997;7(Suppl):S22-S29
11. Blumen SC, Nisipeanu P, Sadeh M, et al. Epidemiology and inheritance of oculopharyngeal muscular dystrophy in Israel. Neuromuscul Disord 1997;7(Suppl):S38-S40
12. Zlotogora J. Dominance and homozygosity. Am J Med Genet 1997;68:412-416
13. Bouchard G, De Braekeleer M. Histoire d'un genome. Québec: Presses de l'Universite du Québec, 1990
14. Wexler NS, Young AB, Tanzi RE, et al. Homozygotes for Huntington's disease. Nature 1987;326:194-197
15. Myers RH, Leavitt JLAF. Homozygote for Huntington disease. Am J Hum Genet 1989;45:615-618
16. Ferlini A, Salvi F, Uncini A, et al. Homozygosity and heterozygosity for the transthyretin Leu64 mutation: clinical, biochemical and molecular findings. Clin Genet 1996;49:10-14
17. Matsumura R, Futamura N, Fujimoto Y, et al. Spinocerebellar ataxia type 6. Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion. Neurology 1997;49:1238-1243
18. Welander L. Homozygous appearance of distal myopathy. Acta Genet Stat Med 1957;7:321-325
19. Paulson HL, Fischbeck KH.Trinucleotide repeats in neurologic disorders. Annu Rev Neurosci 1996;19:79-107