Literature DB >> 123591

A family with apparently sex-linked optic atrophy.

L N Went, E C De Vries-De Mol, H J Völker-Dieben.   

Abstract

A family is described in which a probable new form of sex-linked optic atrophy was found in eight individuals. Some additional neurological abnormalities were noted. Results of studies of the Xg blood group excluded close linkage between the optic atrophy and Xg genes. As a probable coincidence, Huntington's chorea was found in a side branch of the family.

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Year:  1975        PMID： 123591      PMCID： PMC1013237          DOI： 10.1136/jmg.12.1.94

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


  2 in total

1.  A sex-linked recessive form of spastic paraplegia.

Authors:  A W JOHNSTON; V A McKUSICK
Journal:  Am J Hum Genet       Date:  1962-03       Impact factor: 11.025

2.  Two kindreds with a sex-linked recessive form of spastic paraplegia.

Authors:  T F Thurmon; B A Walker; C I Scott; M H Abbott
Journal:  Birth Defects Orig Artic Ser       Date:  1971-02
  2 in total
  6 in total

Review 1.  Dominant optic atrophy.

Authors:  Guy Lenaers; Christian Hamel; Cécile Delettre; Patrizia Amati-Bonneau; Vincent Procaccio; Dominique Bonneau; Pascal Reynier; Dan Milea
Journal:  Orphanet J Rare Dis       Date:  2012-07-09       Impact factor: 4.123

2.  [Hereditary optic atrophies].

Authors:  C M Poloschek; W A Lagrèze
Journal:  Ophthalmologe       Date:  2009-09       Impact factor: 1.059

3.  A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome.

Authors:  J J Assink; N T Tijmes; J B ten Brink; R J Oostra; F C Riemslag; P T de Jong; A A Bergen
Journal:  Am J Hum Genet       Date:  1997-10       Impact factor: 11.025

4.  Preliminary exclusion of an X-linked gene in Leber optic atrophy by linkage analysis.

Authors:  J D Chen; I Cox; M J Denton
Journal:  Hum Genet       Date:  1989-06       Impact factor: 4.132

Review 5.  Optic atrophies in metabolic disorders.

Authors:  Marjan Huizing; Brian P Brooks; Yair Anikster
Journal:  Mol Genet Metab       Date:  2005-09-27       Impact factor: 4.797

Review 6.  A review of primary hereditary optic neuropathies.

Authors:  M Votruba; S Aijaz; A T Moore
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982
  6 in total

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