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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2011-1-18
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pubmed:abstractText |
Oculopharyngodistal myopathy (OPDM) has been reported as a rare, adult-onset hereditary muscle disease with putative autosomal dominant and autosomal recessive inheritance. Patients with OPDM present with progressive ocular, pharyngeal, and distal limb muscle involvement. The genetic defect causing OPDM has not been elucidated.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
1526-632X
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pubmed:author |
pubmed-author:BushbyKK,
pubmed-author:DeymeerFF,
pubmed-author:DurmusHH,
pubmed-author:ErcanII,
pubmed-author:ErtekinCC,
pubmed-author:GokyigitiMM,
pubmed-author:KarcagiVV,
pubmed-author:KiyanEE,
pubmed-author:LavalS HSH,
pubmed-author:LochmüllerHH,
pubmed-author:ParmanYY,
pubmed-author:Serdaroglu-OflazerPP,
pubmed-author:SolakogluSS,
pubmed-author:StraubVV
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pubmed:issnType |
Electronic
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pubmed:day |
18
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pubmed:volume |
76
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
227-35
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pubmed:meshHeading |
pubmed-meshheading:21242490-Adolescent,
pubmed-meshheading:21242490-Adult,
pubmed-meshheading:21242490-Age of Onset,
pubmed-meshheading:21242490-Aged,
pubmed-meshheading:21242490-Atrophy,
pubmed-meshheading:21242490-Blepharoptosis,
pubmed-meshheading:21242490-Child,
pubmed-meshheading:21242490-Deglutition,
pubmed-meshheading:21242490-Disease Progression,
pubmed-meshheading:21242490-Electromyography,
pubmed-meshheading:21242490-Facial Muscles,
pubmed-meshheading:21242490-Female,
pubmed-meshheading:21242490-Follow-Up Studies,
pubmed-meshheading:21242490-Genes, Dominant,
pubmed-meshheading:21242490-Genes, Recessive,
pubmed-meshheading:21242490-Genetic Predisposition to Disease,
pubmed-meshheading:21242490-Humans,
pubmed-meshheading:21242490-Male,
pubmed-meshheading:21242490-Middle Aged,
pubmed-meshheading:21242490-Muscle Weakness,
pubmed-meshheading:21242490-Muscular Dystrophy, Oculopharyngeal,
pubmed-meshheading:21242490-Phenotype,
pubmed-meshheading:21242490-Severity of Illness Index,
pubmed-meshheading:21242490-Spirometry,
pubmed-meshheading:21242490-Time Factors,
pubmed-meshheading:21242490-Turkey,
pubmed-meshheading:21242490-Vocal Cords
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pubmed:year |
2011
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pubmed:articleTitle |
Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients.
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pubmed:affiliation |
Department of Neurology, Istanbul University, Istanbul Faculty of Medicine, 34390, Capa, Istanbul, Turkey.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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