Abstract:
:Aland Island eye disease (AIED) and X linked congenital stationary night blindness (CSNB) have been mapped to Xp11.3. Patients have been described with deletions of the Duchenne muscular dystrophy (DMD) gene who also had a negative electroretinogram (ERG) similar to that seen in patients with CSNB and AIED. This seems to confirm that some cases of AIED and CSNB map to Xp21. We examined 16 boys with DMD/BMD (Becker muscular dystrophy) of whom 10 had negative ERGs, eight of them having deletions downstream from exon 44. Normal dark adaptation thresholds were observed in all patients and there were no anomalous visual functions. Hence, CSNB cannot be assigned to Xp21 and negative ERG in DMD/BMD is not associated with eye disease. Six boys with DMD/BMD had normal ERGs. We speculate that a retinal or glial dystrophin may be truncated or absent in the boys with negative ERGs.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Jensen H,Warburg M,Sjö O,Schwartz Mdoi
10.1136/jmg.32.5.348subject
Has Abstractpub_date
1995-05-01 00:00:00pages
348-51issue
5eissn
0022-2593issn
1468-6244journal_volume
32pub_type
杂志文章abstract::A case of a supernumerary metacentric small chromosome, diagnosed at birth, is described. The cytogenetic findings support its identification as i(18p). The clinical development from birth to 12 months is reported, with particular attention given to the psychomotor retardation and to the immunological aspect. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
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更新日期:1979-02-01 00:00:00
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journal_title:Journal of medical genetics
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pub_type: 杂志文章,评审
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journal_title:Journal of medical genetics
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journal_title:Journal of medical genetics
pub_type: 杂志文章
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更新日期:1999-07-01 00:00:00
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journal_title:Journal of medical genetics
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更新日期:1982-12-01 00:00:00
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更新日期:2015-08-01 00:00:00
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更新日期:2020-06-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:
更新日期:1999-02-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
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更新日期:2011-12-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
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更新日期:1994-09-01 00:00:00
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doi:10.1136/jmg.32.4.293
更新日期:1995-04-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2016-104111
更新日期:2016-12-01 00:00:00
abstract::The observation of Campbell and Price in 1979 that their Unit had diagnosed four subjects with both Klinefelter's syndrome and congenital hypothyroidism raised the suspicion of an association between the two conditions. This, and the published reports of an XX male, five XXY males, and one mosaic XY/XXY with congenita...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.25.4.247
更新日期:1988-04-01 00:00:00
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pub_type: 杂志文章
doi:10.1136/jmg.33.7.603
更新日期:1996-07-01 00:00:00
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更新日期:2020-07-27 00:00:00
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更新日期:1993-08-01 00:00:00
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更新日期:2003-01-01 00:00:00
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journal_title:Journal of medical genetics
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更新日期:1992-12-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.12.1.64
更新日期:1975-03-01 00:00:00
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journal_title:Journal of medical genetics
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更新日期:1996-01-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
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更新日期:2007-07-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
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更新日期:1995-11-01 00:00:00
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更新日期:1991-06-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.31.3.219
更新日期:1994-03-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2008.058271
更新日期:2008-07-01 00:00:00