Linked Life Data

6568918

Source:http://linkedlifedata.com/resource/pubmed/id/6568918

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
1985-2-20
pubmed:abstractText
A family is presented in which 12 members over 3 generations have been affected by oculopharyngeal dystrophy. The clinical features of 7 affected members are described. All developed ptosis in middle age and dysphagia later in the clinical course. Four had mild bilateral facial weakness and mild proximal weakness. Extra-ocular movements were normal in all. A deltoid muscle biopsy from a 71-year-old affected male showed nonspecific myopathic features (random variation in muscle fibre size and atrophy of type 2A and 2B fibres). The skeletal muscles and striated musculature of the pharynx and upper oesophagus of a 75-year-old affected female examined at postmortem showed histological myopathic changes (loss of muscle fibres, variation in size of fibres with scattered small angular and rounded 'giant' muscle fibres, proliferation and central migration of sarcolemmal nuclei, increase in fat and fibrous tissue and occasional fibres undergoing segmental degeneration). This appearance was consistent with a muscular dystrophy of chronic type. Detailed neuropathological examination of the brain stem nuclei was normal. The spinal cord showed an unusual hydromyelia affecting C7 to T4 segments.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0196-6383
pubmed:author
pubmed:issnType
Print
pubmed:volume
19
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
102-9
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1983
pubmed:articleTitle
Oculopharyngeal dystrophy: clinicopathological study of an Australian family.
pubmed:publicationType
Journal Article