Identification of a novel mutation in a Korean patient with oculopharyngeal muscular dystrophy

Journal of Clinical Neuroscience

Volumn 14, Issue 1, 2007, Pages 89-92

  Bae, Jong Seok ^a   Ki, Chang Seok ^b   Kim, Jong Won ^b   Kim, Byoung Joon ^b  

^a Seoul Medical Center   (South Korea)

^b Sungkyunkwan University School of Medicine   (South Korea)

Author keywords

Korea; Muscular dystrophy; Mutation; Oculopharyngeal; PABPN1

Indexed keywords

ALANINE; CHOLINESTERASE INHIBITOR; GENOMIC DNA; POLYADENYLATE BINDING PROTEIN NUCLEAR 1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BULBAR PARALYSIS; CASE REPORT; DYSARTHRIA; DYSPHAGIA; ELECTROMYOGRAPHY; EXON; GENE INSERTION; GENE MUTATION; HUMAN; KOREA; MALE; MOTOR UNIT POTENTIAL; MYASTHENIA GRAVIS; NEUROLOGIC EXAMINATION; OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPHTHALMOPLEGIA; PRIORITY JOURNAL; PTOSIS; SEQUENCE ANALYSIS;

BLEPHAROPTOSIS; DEGLUTITION DISORDERS; DNA TRANSPOSABLE ELEMENTS; EXONS; HUMANS; KOREA; MALE; MIDDLE AGED; MUSCULAR DYSTROPHY, OCULOPHARYNGEAL; MUTATION; PEDIGREE; POLY(A)-BINDING PROTEIN II; TRINUCLEOTIDE REPEATS;

EID: 33751322405     PISSN: 09675868     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jocn.2005.12.036     Document Type: Article

References (12)

1. Victor M., Hayes R., and Adams R.D. Oculopharyngeal muscular dystrophy. A familial disease of late life characterized by dysphagia and progressive ptosis of the eyelids. N Engl J Med 267 (1962) 1267-1272
2. Fried K., Arlozorov A., and Spira R. Autosomal recessive oculopharyngeal muscular dystrophy. J Med Genet 12 (1975) 416-418
3. Brais B., Bouchard J.P., Xie Y.G., et al. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet 18 (1998) 164-167
4. Uyama E., Tsukahara T., Goto K., et al. Nuclear accumulation of expanded PABP2 gene product in oculopharyngeal muscular dystrophy. Muscle Nerve 23 (2000) 1549-1554
5. Hill M.E., Creed G.A., McMullan T.F., et al. Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population. Brain 124 (2001) 522-526
6. Becher M.W., Morrison L., Davis L.E., et al. Oculopharyngeal muscular dystrophy in Hispanic New Mexicans. JAMA 286 (2001) 2437-2440
7. Robinson D.O., Hammans S.R., Read S.P., et al. 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
8. Yi S.D., Park Y.C., and Chung T.H. A family of oculopharyngeal muscular dystrophy and its HLA typing. J Korean Neuro Assoc 4 (1986) 266-272
9. Nakamoto M., Nakano S., Kawashima S., et al. Unequal crossing-over in unique PABP2 mutations in Japanese patients: a possible cause of oculopharyngeal muscular dystrophy. Arch Neurol 59 (2002) 474-477
10. van der Sluijs B.M., van Engelen B.G., and Hoefsloot L.H. Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene. Hum Mutat 21 (2003) 553
11. Van Der Sluijs B.M., Hoefsloot L.H., Padberg G.W., et al. Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint. J Neurol 250 (2003) 1307-1312
12. Hino H., Araki K., Uyama E., et al. Myopathy phenotype in transgenic mice expressing mutated PABPN1 as a model of oculopharyngeal muscular dystrophy. Hum Mol Genet 13 (2004) 181-190