A late-onset case of oculopharyngeal muscular dystrophy carrying a (GCG) 8 repeat expansion in the PAPBN1 gene

Clinical Neurology

Volumn 45, Issue 6, 2005, Pages 437-440

  Tokutake, Takayoshi ^a   Ikeuchi, Takeshi ^a   Tanaka, Keiko ^a   Onodera, Osamu ^a   Nishizawa, Masatoyo ^a  

^a NIIGATA UNIVERSITY   (Japan)

Author keywords

Dysphagia; GCG repeat expansion; Gene diagnosis; Oculopharyngeal dystrophy; Ptosis

Indexed keywords

CREATINE KINASE; POLY A BINDING PROTEIN NUCLEAR 1; POLYADENYLIC ACID BINDING PROTEIN; UNCLASSIFIED DRUG;

AGED; ARTICLE; CASE REPORT; CELL SIZE; CELL VACUOLE; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; DIPLOPIA; DISEASE SEVERITY; DYSPHAGIA; FEMALE; GENE; GENETIC ANALYSIS; HETEROZYGOSITY; HOSPITAL ADMISSION; HUMAN; LEG MUSCLE; MUSCLE BIOPSY; MUSCLE WEAKNESS; NEUROLOGIC EXAMINATION; OCULOPHARYNGEAL MUSCULAR DYSTROPHY; ONSET AGE; PAPBN1 GENE; PHENOTYPE; PTOSIS; GENETICS; HETEROZYGOTE DETECTION; PEDIGREE; TRINUCLEOTIDE REPEAT;

AGED; FEMALE; HETEROZYGOTE DETECTION; HUMANS; MUSCULAR DYSTROPHY, OCULOPHARYNGEAL; PEDIGREE; PHENOTYPE; POLY(A)-BINDING PROTEINS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 23444450257     PISSN: 0009918X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

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