Oculopharyngeal muscular dystrophy - An under-diagnosed disease in China? Report a China-born Chinese with PABPN1 mutation and epidemiology review of the literature

Journal of the Formosan Medical Association

Volumn 111, Issue 7, 2012, Pages 397-402

  Chien, Yu Yi ^a  

^a CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

Author keywords

Epidemiology; Filamentous inclusions; Oculopharyngeal muscular dystrophy; Polyadenylate binding protein nuclear 1 gene; Prevalence; Rimmed vacuole

Indexed keywords

BINDING PROTEIN; POLYADENYLATE BINDING PROTEIN NUCLEAR 1; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CASE REPORT; CELL VACUOLE; CHINA; CHINESE; DEVELOPING COUNTRY; DIAGNOSTIC ERROR; DIPLOPIA; DYSPHAGIA; ELECTROMYOGRAPHY; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HISTOPATHOLOGY; HUMAN; IMMIGRANT; MALE; MEDICAL LITERATURE; MEDICAL RECORD REVIEW; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; NERVE CONDUCTION; OCULOPHARYNGEAL MUSCULAR DYSTROPHY; PTOSIS; RETINA DEGENERATION; RETROSPECTIVE STUDY; TRINUCLEOTIDE REPEAT; WEAKNESS;

ADULT; AGED; AMERICAS; ASIA; CHINA; ELECTROMYOGRAPHY; EUROPE; FEMALE; GENOTYPING TECHNIQUES; HUMANS; MALE; MIDDLE AGED; MUSCULAR DYSTROPHY, OCULOPHARYNGEAL; NEURAL CONDUCTION; POLY(A)-BINDING PROTEIN I; POLY(A)-BINDING PROTEIN II; PREVALENCE; TRINUCLEOTIDE REPEATS;

EID: 84864021970     PISSN: None     EISSN: 09296646     Source Type: Journal    
DOI: 10.1016/j.jfma.2011.06.017     Document Type: Article

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