Oculopharyngeal muscular dystrophy (OPMD) - Report and genetic studies of an Australian kindred

Clinical Genetics

Volumn 51, Issue 1, 1997, Pages 52-55

  Teh, Bin Tean ^a   Sullivan, Alice Ann ^b   Farnebo, Filip ^a   Zander, Cecilia ^a   Li, Fang Yuan ^a   Strachan, Noela ^b   Schalling, Martin ^a   Larsson, Catharina ^a   Sandstrom, Paul ^b  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b PRINCESS ALEXANDRA HOSPITAL   (Australia)

Author keywords

Chromosome 14; Linkage analysis; Oculopharyngeal muscular dystrophy (OPMD); Repeat expansion

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 14; CHROMOSOME 14Q; EYE DISEASE; FOUNDER EFFECT; GENETIC LINKAGE; HUMAN; MALE; MUSCULAR DYSTROPHY; MYOTONIC DYSTROPHY; OCULOPHARYNGEAL MUSCULAR DYSTROPHY; PHARYNX DISEASE; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

EID: 0031048466     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1997.tb02415.x     Document Type: Article

References (12)

1. Barbeau A. La myopathie oculaire au Canada Francais. Un Méd Can 1965: 94: 1186-1187.
2. Brais B, Xie Y-G, Sanson M, Morgan K, Weissenbach J, Korczyn AD, Blumen SC, Fardeau M, Tome FMS, Bouchard J-P, Rouleau GA. The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac α and β myosin heavy chain genes on chromosome 14q11.2-q13. Hum Mol Genet 1995a: 4: 429-434.
3. Brais B, Morgan K, Xie, Y, Tome FMS, Fardeau, Bouchard J-P, Rouleau GA. Strong linkage disequilibrium suggests one founder mutation is responsible for all cases of oculopharyngeal muscular dystrophy (OPMD) in the French Canadian population. Am J Hum Genet Suppl 1995b: 57: A160.
4. Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion J-P, Hudson T, Sohn R, Zemelman B, Snell RG, Rundle SA, Crow S, Davies J, Shelbourne P, Buxton J, Jones C, Juvonen V, Johnson K, Harper PS, Shaw DJ, Housman DE. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 1992: 68: 799-808.
5. Brooke MH. The differentiation of oculopharyngeal dystrophy from oculocraniosomatic neuromuscular disease: a clinical, pathological correlation. In: Nesvadba, ed. Third symposium on Neuromuscular Disorder. Prague: Balnea, 1973: 107-112.
6. Lindblad K, Nylander P-O, De Bruyn A, Sourney D, Zander C, Engström C, Holmgren G, Hudson T, Chotai J, Mendlewicz J, Van Broeckhoven C, Schalling M, Adolfsson R. Detection of expanded CAG repeats in bipolar affective disorder using the repeat expansion detection (RED) method. Neurobiol Dis 1995: 2: 55-62.
7. Polymeropoulos MH, Xiao H, Rath DS, Merril CR. Dinucleotide repeat polymorphism at the human cardiac beta-myosin gene. Nucl Acids Res 1991: 19: 4019.
8. Rogaev EI, Keryanov SA, Malyako YK. Dinucleotide repeat polymorphisms at the PI, HBE1 and MYH7 loci. Hum Mol Genet 1992: 1: 285.
9. Schalling M, Hudson TJ, Buetow KH, Housman DE. Direct detection of novel expanded trinucleotide repeats in the human genome. Nature Genet 1993: 4: 135-139.
10. Taylor EW. Progressive vagus-glossopharyngeal paralysis with ptosis: a contribution to the group of family diseases. J Nerv Ment Dis 1915: 42: 129-139.
11. Tomé F, Fardeau M. Nuclear inclusions in oculopharyngeal dystrophy. Acta Neuropathol 1980: 49: 85-87.
12. Victor M, Hayes R, Adams RD. Oculopharyngeal muscular dystrophy: familial disease of late life characterized by dysphagia and progressive ptosis of the eyelids. N Engl J Med 1962: 267: 1267-1272.