Siblings with recessive oculopharyngeal muscular dystrophy

Neuromuscular Disorders

Volumn 17, Issue 3, 2007, Pages 254-257

  Hebbar, Srisha ^a   Webberley, Michael J ^a   Lunt, Peter ^b   Robinson, David O ^c,d  

^a WORCESTERSHIRE ROYAL HOSPITAL   (United Kingdom)

^b ST MICHAEL'S HOSPITAL   (United Kingdom)

^c SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^d UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

Author keywords

Homozygosity; Late onset ptosis; Oculopharyngeal muscular dystrophy; Recessive allele

Indexed keywords

AGED; ANKYLOSING SPONDYLITIS; ARTICLE; CASE REPORT; DYSPHAGIA; FEMALE; HUMAN; MALE; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; OCULOPHARYNGEAL MUSCULAR DYSTROPHY; ONSET AGE; PEDIGREE ANALYSIS; PNEUMONIA; PRIORITY JOURNAL; PTOSIS; RECESSIVE INHERITANCE; SIBLING;

AGED; FEMALE; HUMANS; MALE; MUSCULAR DYSTROPHY, OCULOPHARYNGEAL; SIBLINGS;

EID: 33947185940     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2006.11.009     Document Type: Article

References (4)

1. 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
2. Brais B. Oculopharyngeal muscular dystrophy: a late-onset polyalanine disease. Cytogenet Genome Res 100 (2003) 252-260
3. Hill M.E., Creed G.A., McMullan T.F., Tyers A.G., Hilton-Jones D., Robinson D.O., and Hammans S.R. Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population. Brain 124 3 (2001) 522-526
4. Robinson D.O., Hammans S.R., Read S.P., and 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 116 4 (2005) 267-271