Oculopharyngodistal myopathy is genetically heterogeneous and most cases are distinct from oculopharyngeal muscular dystrophy

Neuromuscular Disorders

Volumn 11, Issue 8, 2001, Pages 699-702

  Minami, Narihiro ^a,d   Ikezoe, Koji ^a,b   Kuroda, Hirotaka ^a   Nakabayashi, Haruo ^c   Satoyoshi, Eijiro ^a   Nonaka, Ikuya ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^b KYUSHU UNIVERSITY   (Japan)

^c JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

GCG expansion; Oculopharyngeal muscular dystrophy; Oculopharyngodistal myopathy; PABP2 gene; PABPN1 gene

Indexed keywords

BINDING PROTEIN; CREATINE KINASE; POLY(A) BINDING PROTEIN NUCLEAR 1; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; FEMALE; GENE MUTATION; GENETIC DISORDER; GENETIC HETEROGENEITY; HUMAN; HUMAN TISSUE; MALE; MUSCLE BIOPSY; MYOPATHY; NUCLEOTIDE SEQUENCE; OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OCULOPHARYNGODISTAL MYOPATHY; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TRINUCLEOTIDE REPEAT;

AGED; AGED, 80 AND OVER; DIAGNOSIS, DIFFERENTIAL; FEMALE; GENETIC HETEROGENEITY; HUMANS; MALE; MIDDLE AGED; MUSCULAR DISEASES; MUSCULAR DYSTROPHIES; POLY(A)-BINDING PROTEINS; RNA-BINDING PROTEINS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 0034817325     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(01)00227-9     Document Type: Article

References (11)

1. Oculopharyngeal muscular dystrophy
2. Oculopharyngeal muscular dystrophy in two unrelated Japanese families
3. The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac α and β myosin heavy chain genes on chromosome 14q11.2-q13
4. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
5. Oculopharyngodistal myopathy: Report of four families
6. Distal myopathy
7. Morphologic changes in muscle fibers in oculopharyngeal muscular dystrophy
8. Muscular dystrophy: Features of ocular myopathy, distal myopathy, and myotonic dystrophy
9. Familial oculopharyngeal muscular dystrophy with distal spread
10. Oculopharyngeal muscular dystrophy and distal myopathy: Intrafamilial difference in the onset and distribution of muscular involvement
11. Autosomal recessive oculopharyngodistal myopathy in light of distal myopathy with rimmed vacuoles and oculopharyngeal muscular dystrophy