Mutation and haplotype analysis of oculopharyngeal muscular dystrophy in Thai patients

Journal of Clinical Neuroscience

Volumn 18, Issue 5, 2011, Pages 674-677

  Pulkes, T ^a   Papsing, C ^a   Busabaratana, M ^a   Dejthevaporn, C ^a   Witoonpanich, R ^a  

^a MAHIDOL UNIVERSITY   (Thailand)

Author keywords

Oculopharyngeal muscular dystrophy; PABPN1 gene; Trinucleotide repeat

Indexed keywords

CYTOSINE; GUANINE; POLYADENYLIC ACID BINDING PROTEIN;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; DISEASE ASSOCIATION; EXON; FEMALE; GENE; GENE MUTATION; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; OCULOPHARYNGEAL MUSCULAR DYSTROPHY; PABN1 GENE; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PREVALENCE; PRIORITY JOURNAL; THAILAND; TRINUCLEOTIDE REPEAT;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; FEMALE; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; MUSCULAR DYSTROPHY, OCULOPHARYNGEAL; MUTATION; POLY(A)-BINDING PROTEIN II; THAILAND; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 79953189398     PISSN: 09675868     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jocn.2010.08.020     Document Type: Article

References (22)

1. M.E. Hill, G.A. Creed, and T.F. McMullan Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population Brain 124 2001 522 526 (Pubitemid 32221319)
2. M.W. Becher, L. Morrison, and L.E. Davis Oculopharyngeal muscular dystrophy in Hispanic New Mexicans JAMA 286 2001 2437 2440 (Pubitemid 33098162)
3. F.M. Tome, and M. Fardeau Nuclear inclusions in oculopharyngeal dystrophy Acta Neuropathol 49 1980 85 87 (Pubitemid 10139969)
4. B. Brais, J.P. Bouchard, and Y.G. Xie Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy Nat Genet 18 1998 164 167 (Pubitemid 28082465)
5. M. Nakamoto, S. Nakano, and S. Kawashima Unequal crossing-over in unique PABP2 mutations in Japanese patients: a possible cause of oculopharyngeal muscular dystrophy Arch Neurol 59 2002 474 477 (Pubitemid 34208160)
6. D.O. Robinson, S.R. Hammans, and S.P. Read Oculopharyngeal muscular dystrophy (OPMD): analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism Hum Genet 116 2005 267 271 (Pubitemid 40277238)
7. A. Semmler, W. Kress, and S. Vielhaber Variability of the recessive oculopharyngeal muscular dystrophy phenotype Muscle Nerve 35 2007 681 684 (Pubitemid 46676860)
8. B. Brais, Y.G. Xie, and M. Sanson The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13 Hum Mol Genet 4 1995 429 434
9. S.C. Blumen, P. Nisipeanu, and M. Sadeh Epidemiology and inheritance of oculopharyngeal muscular dystrophy in Israel Neuromuscul Disord 7 1997 S38 S40
10. R.P. Grewal, J.D. Karkera, and R.K. Grewal Mutation analysis of oculopharyngeal muscular dystrophy in Hispanic American families Arch Neurol 56 1999 1378 1381 (Pubitemid 29519854)
11. S.C. Blumen, A.D. Korczyn, and H. Lavoie Oculopharyngeal MD among Bukhara Jews is due to a founder (GCG)9 mutation in the PABP2 gene Neurology 55 2000 1267 1270
12. T. Muller, M. Deschauer, and F. Kolbe-Fehr Genetic heterogeneity in 30 German patients with oculopharyngeal muscular dystrophy J Neurol 253 2006 892 895 (Pubitemid 44100442)
13. E. Uyama, O. Nohira, and F.M. Tome Oculopharyngeal muscular dystrophy in Japan Neuromuscul Disord 7 1997 S41 S49
14. T. Nagashima, H. Kato, and M. Kase Oculopharyngeal muscular dystrophy in a Japanese family with a short GCG expansion (GCG)(11) in PABP2 gene Neuromuscul Disord 10 2000 173 177 (Pubitemid 30151127)
15. K.J. Goh, K.T. Wong, and I. Nishino Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman Neuromuscul Disord 15 2005 262 264 (Pubitemid 40255783)
16. J.S. Bae, C.S. Ki, and J.W. Kim Identification of a novel mutation in a Korean patient with oculopharyngeal muscular dystrophy J Clin Neurosci 14 2007 89 92 (Pubitemid 44809931)
17. H.C. Kuo, C.M. Chen, and G.J. Lee-Chen Study of a Taiwanese family with oculopharyngeal muscular dystrophy J Neurol Sci 278 2009 21 24
18. P.C. Scacheri, C. Garcia, and R. Hebert Unique PABP2 mutations in "Cajuns" suggest multiple founders of oculopharyngeal muscular dystrophy in populations with French ancestry Am J Med Genet 86 1999 477 481 (Pubitemid 29503202)
19. D.O. Robinson, A.J. Wills, and S.R. Hammans Oculopharyngeal muscular dystrophy: a point mutation which mimics the effect of the PABPN1 gene triplet repeat expansion mutation J Med Genet 43 2006 e23
20. C. Ukachoke, P. Ashby, and A. Basinski Usefulness of single fiber EMG for distinguishing neuromuscular from other causes of ocular muscle weakness Can J Neurol Sci 21 1994 125 128 (Pubitemid 24174901)
21. T. Tokutake, T. Ikeuchi, and K. Tanaka A late-onset case of oculopharyngeal muscular dystrophy carrying a (GCG)8 repeat expansion in the PAPBN1 gene Rinsho Shinkeigaku 45 2005 437 440 (In Japanese) (Pubitemid 41192580)
22. D. Nakashima, H. Nakajima, and S. Ishida Preferential distal muscle involvement in case of oculopharyngeal muscular dystrophy with (GCG) 13 expansion Rinsho Shinkeigaku. 43 2003 560 563 (In Japanese) (Pubitemid 38036125)