Literature DB >> 3587876

Hereditary congenital external ophthalmoplegia.

W A Houtman, T W van Weerden, P H Robinson, B de Vries, T U Hoogenraad.   

Abstract

Several members of a large pedigree suffering from hereditary congenital external ophthalmoplegia, an autosomal hereditary disorder of ocular movements, were examined and surgically treated. From nystagmographic findings it was concluded that the main cause of this disorder is of supranuclear origin. Specimen of the inferior oblique muscle revealed no abnormalities or showed decrease of type I muscle fibers.

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Year:  1986        PMID: 3587876     DOI: 10.1159/000309712

Source DB:  PubMed          Journal:  Ophthalmologica        ISSN: 0030-3755            Impact factor:   3.250


  5 in total

Review 1.  [Congenital fibrosis of extraocular muscles (CFEOM) and other phenotypes of congenital cranial dysinnervation syndromes (CCDD)].

Authors:  Frank Hanisch; Viktoria Bau; Stephan Zierz
Journal:  Nervenarzt       Date:  2005-04       Impact factor: 1.214

Review 2.  Congenital cranial dysinnervation disorders.

Authors:  Anupam Singh; P K Pandey; Ajai Agrawal; Sanjeev Kumar Mittal; Kartik Maheshbhai Rana; Chirag Bahuguna
Journal:  Int Ophthalmol       Date:  2016-11-11       Impact factor: 2.031

3.  Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12.

Authors:  E C Engle; I Marondel; W A Houtman; B de Vries; A Loewenstein; M Lazar; D C Ward; R Kucherlapati; A H Beggs
Journal:  Am J Hum Genet       Date:  1995-11       Impact factor: 11.025

4.  Clinical and surgical data of affected members of a classic CFEOM I family.

Authors:  Adriano Magli; Teresa de Berardinis; Fabiana D'Esposito; Vincenzo Gagliardi
Journal:  BMC Ophthalmol       Date:  2003-04-17       Impact factor: 2.209

5.  CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX.

Authors:  Elizabeth C Engle; Nathalie McIntosh; Koki Yamada; Bjorn A Lee; Roger Johnson; Michael O'Keefe; Robert Letson; Arnold London; Evan Ballard; Mark Ruttum; Naomichi Matsumoto; Nakamichi Saito; Mary Louise Z Collins; Lisa Morris; Monte Del Monte; Adriano Magli; Teresa de Berardinis
Journal:  BMC Genet       Date:  2002-03-06       Impact factor: 2.797

  5 in total

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