Literature DB >> 9863593

Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM).

G C Black1, R Perveen, E Hatchwell, A Reck, J Clayton-Smith.   

Abstract

Congenital external ophthalmoplegia (CFEOM) is an uncommon autosomal dominant condition that has previously been mapped to the pericentromeric region of chromosome 12 in seven families with no evidence of locus heterogeneity. We report three families with typical CFEOM. One family does not map to this region of chromosome 12 or to other chromosomal locations implicated in disorders of lid or ocular movement. Recombinants in two CFEOM families potentially help to reduce the size of the candidate region on chromosome 12.

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Year:  1998        PMID： 9863593      PMCID： PMC1051508          DOI： 10.1136/jmg.35.12.985

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  8 in total

1.  Congenital fibrosis of the extraocular muscles; a report of six cases.

Authors:  R C LAUGHLIN
Journal:  Am J Ophthalmol       Date:  1956-03       Impact factor: 5.258

2.  Dominantly inherited ptosis, strabismus and ectopic pupils.

Authors:  E McPherson; C Robertson; A Cammarano; J G Hall
Journal:  Clin Genet       Date:  1976-07       Impact factor: 4.438

3.  Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12.

Authors:  E C Engle; L M Kunkel; L A Specht; A H Beggs
Journal:  Nat Genet       Date:  1994-05       Impact factor: 38.330

4.  A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1.

Authors:  E C Engle; A E Castro; M E Macy; J H Knoll; A H Beggs
Journal:  Am J Hum Genet       Date:  1997-05       Impact factor: 11.025

5.  Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13.

Authors:  S M Wang; J Zwaan; P B Mullaney; M H Jabak; A Al-Awad; A H Beggs; E C Engle
Journal:  Am J Hum Genet       Date:  1998-08       Impact factor: 11.025

6.  Generalized fibrosis of the extraocular muscles.

Authors:  L Apt; R N Axelrod
Journal:  Am J Ophthalmol       Date:  1978-06       Impact factor: 5.258

7.  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

8.  Neural misdirection in congenital ocular fibrosis syndrome: implications and pathogenesis.

Authors:  M C Brodsky; S C Pollock; E G Buckley
Journal:  J Pediatr Ophthalmol Strabismus       Date:  1989 Jul-Aug       Impact factor: 1.402
  8 in total
  3 in total

1.  X linked dominant congenital isolated bilateral ptosis: the definition and characterisation of a new condition.

Authors:  T F McMullan; A G Tyers
Journal:  Br J Ophthalmol       Date:  2001-01       Impact factor: 4.638

2.  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

3.  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
  3 in total

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