Confirmation that the specific SSLP microsatellite allele 4qA161 segregates with fascioscapulohumeral muscular dystrophy (FSHD) in a cohort of multiplex and simplex FSHD families

Muscle and Nerve

Volumn 42, Issue 5, 2010, Pages 820-821

  Spurlock, Gillian ^a   Jim, Hoi Ping ^a   Upadhyaya, Meena ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

4qA; FSHD; Haplotype analysis; SSLP; Subtelomeric regions

Indexed keywords

ALLELE; ARTICLE; CHROMOSOME 4Q; COHORT ANALYSIS; DNA POLYMORPHISM; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FAMILY; GENE LINKAGE DISEQUILIBRIUM; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; PHENOTYPE; PRIORITY JOURNAL; SIMPLE SEQUENCE LENGTH POLYMORPHISM; TANDEM REPEAT; UNITED KINGDOM;

COHORT STUDIES; DNA; FEMALE; GENETIC MARKERS; GREAT BRITAIN; HAPLOTYPES; HUMANS; MALE; MICROSATELLITE REPEATS; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; PEDIGREE; PHENOTYPE; POLYMORPHISM, GENETIC; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TANDEM REPEAT SEQUENCES;

EID: 78149354416     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21766     Document Type: Article

References (9)

1. Roos R, Gajdusek DC, Gibbs CJ Jr. The clinical characteristics of transmissible Creutzfeldt-Jakob disease. Brain 1973;96:1-20.
2. Zerr I, Pocchiari M, Collins S, Brandel JP, de Pedro Cuesta J, Knight RS, et al. Analysis of EEG and CSF 14-3-3 proteins as aids to the diagnosis of Creutzfeldt-Jakob disease. Neurology 2000;55:811-815.
3. Schroter A, Zerr I, Henkel K, Tschampa HJ, Finkenstaedt M, Poser S. Magnetic resonance imaging in the clinical diagnosis of Creutzfeldt- Jakob disease. Arch Neurol 2000;57:1751-1757.
4. Stewart LAP, Rydzewska LHMB, Keogh GFP, Knight RSGF. Systematic review of therapeutic interventions in human prion disease. Neurology 2008;70:1272-1281.
5. Gambetti P, Kong Q, Zou W, Parchi P, Chen SG. Sporadic and familial CJD: classification and characterisation. Br Med Bull 2003;66:213-239.
6. Frank HG, Schnorf H, Genoud D, Pizzolato P, Glatzel M, Landis T. Creutzfeldt-Jakob disease presenting as isolated dysarthria and dysphagia due to pseudobulbar palsy. Eur Neurol 2000;44:126-127.
7. Brown P, Gibbs CJ Jr, Rodgers-Johnson P, Asher DM, Sulima MP, Bacote A, et al. Human spongiform encephalopathy: the National Institutes of Health series of 300 cases of experimentally transmitted disease. Ann Neurol 1994;35:513-529.
8. Brunet P, Viader F, Henin D. Encephalopathy of rapid development with supranuclear ophthalmoplegia and peripheral neuropathy. Rev Neurol (Paris) 1986;142:159-166.
9. Safar JG, Geschwind MD, Deering C, Didorenko S, Sattavat M, Sanchez H, et al. Diagnosis of human prion disease. Proc Natl Acad Sci USA 2005;102:3501-3506.