Oculopharyngeal muscular dystrophy phenotypic and genotypic studies in a UK population

Brain

Volumn 124, Issue 3, 2001, Pages 522-526

  Hill, M E ^a   Creed, G A ^b   McMullan, T F W ^b   Tyers, A G ^b   Hilton Jones, D ^c   Robinson, D O ^b   Hammans, Simon R ^a  

^a SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

^b SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^c RADCLIFFE INFIRMARY   (United Kingdom)

Author keywords

Oculopharyngeal muscular dystrophy; Trinucleotide repeat; UK population

Indexed keywords

BINDING PROTEIN; CYTOSINE; GUANINE; POLYADENYLIC ACID; POLYADENYLIC ACID BINDING PROTEIN; TRINUCLEOTIDE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; CANADA; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE PREDISPOSITION; FRANCE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; NEUROPATHOLOGY; OCULOPHARYNGEAL MUSCULAR DYSTROPHY; ONSET AGE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; RACE DIFFERENCE; TRINUCLEOTIDE REPEAT; UNITED KINGDOM;

EID: 0035100386     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/124.3.522     Document Type: Article

References (15)

1. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
2. Presence of inclusion body myositis-like filaments in oculopharyngeal muscular dystrophy. Ultrastructural study of 10 cases
3. Autosomal recessive oculopharyngeal muscular dystrophy
4. Genetic mapping and haplotype analysis of oculopharyngeal muscular dystrophy
5. Mutation analysis of oculopharyngeal muscular dystrophy in Hispanic American families
6. GCG genetic expansions in Italian patients with oculopharyngeal muscular dystrophy
7. The oculopharyngeal syndrome
8. A rapidly progressive adolescent-onset oculopharyngeal somatic syndrome with rimmed vacuoles in two siblings
9. DNA-triplet repeats and neurological disease
10. Oculopharyngodistal myopathy. Report of four families
11. Oculopharyngeal muscular dystrophy: Clinical and morphological follow-up study reveals mitochondrial alterations and unique nuclear inclusions in a severe autosomal recessive type
12. Oculopharyngeal and distal myopathy: A case study from Papua New Guinea
13. Progressive vagus-glossopharyngeal paralysis with ptosis: Contribution to group of family disease
14. Nuclear inclusions in oculopharyngeal dystrophy
15. Oculopharyngeal muscular dystrophy. A familial disease of late life characterized by dysphagia and progressive ptosis of the eyelids