Oculopharyngeal muscular dystrophy in a Japanese family with a short GCG expansion (GCG)11 in PABP2 gene

Neuromuscular Disorders

Volumn 10, Issue 3, 2000, Pages 173-177

  Nagashima, Toshiko ^a   Kato, Hideo ^a   Kase, Manabu ^a   Maguchi, Shiroh ^a   Mizutani, Yasuyuki ^a   Matsuda, Katsuhiro ^a   Chuma, Takayo ^b   Mano, Yukio ^b   Goto, Yu Ichi ^c   Minami, Narihiro ^c   Nonaka, Ikuya ^c   Nagashima, Kazuo ^b  

^a TEINE KEIJINKAI HOSPITAL   (Japan)

^b HOKKAIDO UNIVERSITY   (Japan)

^c NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

(GCG)11 Expansion of PABP2 gene; Intranuclear inclusion; Japanese family; Oculopharyngeal muscular dystrophy; Ophthalmoplegia

Indexed keywords

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; DYSPHAGIA; ELECTROMYOGRAM; FAMILIAL DISEASE; FEMALE; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; MALE; OCULOPHARYNGEAL MUSCULAR DYSTROPHY; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; PTOSIS;

AGED; DNA-BINDING PROTEINS; FEMALE; HUMANS; JAPAN; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; PEDIGREE; POLY(A)-BINDING PROTEIN II; TOMOGRAPHY, X-RAY COMPUTED; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 17444444853     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(99)00104-2     Document Type: Article

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