Variability of the recessive oculopharyngeal muscular dystrophy phenotype

Muscle and Nerve

Volumn 35, Issue 5, 2007, Pages 681-684

  Semmler, Alexander ^a   Kress, Wolfram ^b   Vielhaber, Stefan ^c   Schröder, Rolf ^d   Kornblum, Cornelia ^a  

^a UNIVERSITY HOSPITAL BONN   (Germany)

^b UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

^c UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

^d UNIVERSITY OF COLOGNE   (Germany)

Author keywords

Gene dosage; Genotype; Oculopharyngeal muscular dystrophy; Phenotype

Indexed keywords

ADULT; AGED; ALLELE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CANADA; CASE REPORT; CHROMOSOME 14Q; DISEASE COURSE; DISEASE SEVERITY; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; MALE; OCULOPHARYNGEAL MUSCULAR DYSTROPHY; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

AGED; ALLELES; CHROMOSOMES, HUMAN, PAIR 14; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MIDDLE AGED; MUSCULAR DYSTROPHY, OCULOPHARYNGEAL; POLY(A)-BINDING PROTEIN I; SEQUENCE ANALYSIS, DNA; VARIATION (GENETICS);

EID: 34247556900     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.20726     Document Type: Article

References (13)

1. Blumen SC, Brais B, Korczyn AD, Medinsky S, Chapman J, Asherov A, et al. Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease. Ann Neurol 1999;46:115-118.
2. Brais B, Xie YG, Sanson M, Morgan K, Weissenbach J, Korczyn AD, et al. 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 1995;4:429-434.
3. Brais B, Bouchard JP, Xie YG, Rochefort DL, Chretien N, Tome FM, et al. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet 1998;18:164-167.
4. Brais B. Oculopharyngeal muscular dystrophy: a late-onset polyalanine disease. Cytogenet Genome Res 2003;100:252-260.
5. Hill ME, Creed GA, McMullan TF, Tyers AG, Hilton-Jones D, Robinson DO, et al. Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population. Brain 2001;124:522-526.
6. Medical Research Council. Aids to the examination of the peripheral nervous system. Eastbourne, UK: Baillière Tindall; 1986.
7. Mirabella M, Silvestri G, de Rosa G, Di Giovanni S, Di Muzio A, Uncini A, et al. GCG genetic expansions in Italian patients with oculopharyngeal muscular dystrophy. Neurology 2000;54:608-614.
8. Muller T, Deschauer M, Kolbe-Fehr F, Zierz S. Genetic heterogeneity in 30 German patients with oculopharyngeal muscular dystrophy. J Neurol 2006;253:892-895.
9. Nakamoto M, Nakano S, Kawashima S, Ihara M, Nishimura Y, Shinde A, et al. Unequal crossing-over in unique PABP2 mutations in Japanese patients: a possible cause of oculopharyngeal muscular dystrophy. Arch Neurol 2002;59:474-477.
10. Robinson DO, Hammans SR, Read SP, Sillibourne J. 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 2005;116:267-271.
11. Schober R, Kress W, Grahmann F, Kellermann S, Baum P, Gunzel S, et al. Unusual triplet expansion associated with neurogenic changes in a family with oculopharyngeal muscular dystrophy. Neuropathology 2001;21:45-52.
12. Spriggs BL, Ilse W. Autosomal recessive oculopharyngeal dystrophy - an underrecognized syndrome? ASHG Annual Meeting 2004; Poster 790. Available from http://www.ashg.org/cgi-bin/ashg04s/ashg04
13. Verheesen P, de Kluijver A, van Koningsbruggen S, de Brij M, de Haard HJ, van Ommen GJ, et al. Prevention of oculopharyngeal muscular dystrophy-associated aggregation of nuclear polyA-binding protein with a single-domain intracellular antibody. Hum Mol Genet 2006;15:105-111.