Unique PABPN1 gene mutation in a large Bulgarian family with OPMD

Journal of Neurology

Volumn 255, Issue 4, 2008, Pages 609-611

  Mihaylova, V ^a,b   Muller T ^c   Petrova, I ^a   Tournev, I ^a   Cherninkova, S ^a   Walter, M C ^b   Deschauer, M ^c  

^a UNIVERSITY HOSPITAL ALEXANDROVSKA   (Bulgaria)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^c MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

POLYADENYLIC ACID BINDING PROTEIN;

AGED; BULGARIA; CLINICAL ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; DOMINANT INHERITANCE; FEMALE; GENE; GENE MUTATION; GENOTYPE; HUMAN; LETTER; LIMB WEAKNESS; MALE; OCULOPHARYNGEAL MUSCULAR DYSTROPHY; PABPN1 GENE; PEDIGREE; PRIORITY JOURNAL;

AGE OF ONSET; AGED; AGED, 80 AND OVER; BULGARIA; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HETEROZYGOTE; HUMANS; INHERITANCE PATTERNS; MALE; MIDDLE AGED; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHY, OCULOPHARYNGEAL; MUTATION; OXIDATIVE STRESS; PEDIGREE; POLY(A)-BINDING PROTEIN II; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 42549136048     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-008-0769-y     Document Type: Letter

References (12)

1. Boukriche Y, Maisonobe T, Masson K (2002) Neurogenic involvement in a case of oculopharyngeal muscular dystrophy. Muscle&Nerve 25:98-101
2. Brais B, Xie YG, Sanson M, et al. (1995) 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 4:429-434
3. Brais B, Bouchard JP, Xie YG, et al. (1998) Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nature Genet 18:164-167
4. Hill M, Creed A, McMullan T, et al. (2001) Oculopharyngeal muscular dystrophy. Phenotypic and genotypic studies in a UK population. Brain 124:522-526
5. Mirabella M, Silvestri G, De Rosa G, et al. (2000) GCG genetic expansions in Italian patients with oculopharyngeal muscular dystrophy. Neurology 54:608-614
6. Müller T, Deschauer M, Kolbe-Fehr F, et al. (2006) Genetic heterogeneity in 30 German patients with oculopharyngeal muscular dystrophy. J Neurol 253:892-895
7. Nakamoto M, Nakano S, Kawashima S, et al. (2002) Unequal crossing-over in unique PABP2 mutations in Japanese patients: a possible cause of oculopharyngeal muscular dystrophy. Arch Neurol 59(3):474-477
8. Nakashima D, Nakajima H, Ishida S, et al. (2003) Preferential distal muscle involvement in case of oculopharyngeal muscular dystrophy with (GCG)13 expansion. Rinsho Shinkeigaku 43(9):560-563
9. Robinson D, Hammans S, Read S, et al. (2005) 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. Human Genet 116:267-271
10. Scacheri P, Garcia C, Hébert R, et al. (1999) Unique PABP2 mutations in "Cajuns" suggest multiple founders of oculopharyngeal muscular dystrophy in populations with French ancestry. Am J Med Genet 86(5):477-481
11. Van der Sluis B, Hoefsloot L, Padberg G, et al. (2003) Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint. J Neurol 250:1307-1312
12. Victor M, Hayes R, Adams RD (1962) Oculopharyngeal muscular dystrophy: a familial disease of late life characterized by dysphagia and progressive ptosis of the eyelids. New Engl J Med 267:167-1272