Literature DB >> 8728695

Frequency of myotonic dystrophy gene carriers in cataract patients.

A M Cobo1, J J Poza, A Blanco, A López de Munain, A Saénz, M Azpitarte, J Marchessi, J F Martí Massó.   

Abstract

DNA samples from 231 unselected patients with cataracts were studied to determine the frequency of the DM mutation in cataract patients. A previous epidemiological study established a high prevalence of DM in the population of Guipúzcoa (Basque Country, Spain), 26.5 cases/100,000. We have found two carriers (0.9%) of the DM mutation in patients who are not related to any previously known DM family. The screening of the DM mutation in cataract patients should be restricted to young patients or people with multicoloured and iridescent opacities, in which the risk of carrying the DM premutation could be higher. Our results suggest that subjects with 38 to 80 repeats could constitute the genetic reservoir of the DM mutation.

Entities:  

Mesh：

Substances：

Year:  1996        PMID： 8728695      PMCID： PMC1051871          DOI： 10.1136/jmg.33.3.221

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


  17 in total

1.  Genealogical reconstruction of myotonic dystrophy in the Saguenay-Lac-Saint-Jean area (Quebec, Canada).

Authors:  J Mathieu; M De Braekeleer; C Prévost
Journal:  Neurology       Date:  1990-05       Impact factor: 9.910

2.  Prevalence of myotonic dystrophy in Guipúzcoa (Basque Country, Spain).

Authors:  A López de Munain; A Blanco; J I Emparanza; J J Poza; J F Martí Massó; A Cobo; L Martorell; M Baiget; J M Martínez Lage
Journal:  Neurology       Date:  1993-08       Impact factor: 9.910

3.  Minimal expression of myotonic dystrophy: a clinical and molecular analysis.

Authors:  W Reardon; H G Harley; J D Brook; S A Rundle; S Crow; P S Harper; D J Shaw
Journal:  J Med Genet       Date:  1992-11       Impact factor: 6.318

4.  Comparison of the myotonic dystrophy associated CTG repeat in European and Japanese populations.

Authors:  J Davies; H Yamagata; P Shelbourne; J Buxton; T Ogihara; P Nokelainen; M Nakagawa; R Williamson; K Johnson; T Miki
Journal:  J Med Genet       Date:  1992-11       Impact factor: 6.318

5.  Influence of the sex of the transmitting grandparent in congenital myotonic dystrophy.

Authors:  A López de Munain; A M Cobo; J J Poza; D Navarrete; L Martorell; F Palau; J I Emparanza; M Baiget
Journal:  J Med Genet       Date:  1995-09       Impact factor: 6.318

6.  Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy.

Authors:  H G Harley; J D Brook; S A Rundle; S Crow; W Reardon; A J Buckler; P S Harper; D E Housman; D J Shaw
Journal:  Nature       Date:  1992-02-06       Impact factor: 49.962

7.  Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy.

Authors:  J Buxton; P Shelbourne; J Davies; C Jones; T Van Tongeren; C Aslanidis; P de Jong; G Jansen; M Anvret; B Riley
Journal:  Nature       Date:  1992-02-06       Impact factor: 49.962

8.  Cloning of the essential myotonic dystrophy region and mapping of the putative defect.

Authors:  C Aslanidis; G Jansen; C Amemiya; G Shutler; M Mahadevan; C Tsilfidis; C Chen; J Alleman; N G Wormskamp; M Vooijs
Journal:  Nature       Date:  1992-02-06       Impact factor: 49.962

9.  Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy.

Authors:  H G Harley; S A Rundle; J C MacMillan; J Myring; J D Brook; S Crow; W Reardon; I Fenton; D J Shaw; P S Harper
Journal:  Am J Hum Genet       Date:  1993-06       Impact factor: 11.025

10.  Expansion of the myotonic dystrophy gene in Italian and Spanish patients.

Authors:  S Melchionda; A Cobo; M Gennarelli; L Martorell; C Fattorini; M Baiget; A Lopez de Munain; K Johnson; P Shelbourne; G Novelli
Journal:  J Med Genet       Date:  1992-11       Impact factor: 6.318
View more
  3 in total

1.  [Anticipation in patients with iridescent multicoloured posterior capsular lens opacities ("Christmas tree cataract") : The Role in the diagnosis of myotonic dystrophy].

Authors:  C Reiter; E Gramer
Journal:  Ophthalmologe       Date:  2009-12       Impact factor: 1.059

2.  Efficacy and safety of ropivacaine HCl in peribulbar anaesthesia for cataract surgery in patients with myotonic dystrophy type 1.

Authors:  Alberto Palladino; Maddalena De Bernardo; Marianna Scutifero; Michele Lanza; Silvio De Querquis; Nicola Rosa; Luisa Politano
Journal:  Acta Myol       Date:  2020-06-01

3.  Orthopaedic Disorders in Myotonic Dystrophy Type 1: descriptive clinical study of 21 patients.

Authors:  Lisa Schilling; Raimund Forst; Jürgen Forst; Albert Fujak
Journal:  BMC Musculoskelet Disord       Date:  2013-12-01       Impact factor: 2.362
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.