Literature DB >> 3177452

X-linked mental retardation with dystonic movements of the hands.

M W Partington1, J C Mulley, G R Sutherland, A Hockey, A Thode, G Turner.   

Abstract

We describe a family with a syndrome of mental retardation, dystonic movements of the hands and dysarthria inherited in an X-linked recessive pattern. DNA marker studies gave a maximum lod score of 2.11 at theta of 0.00 for DXS41 with a likely localization of the gene to Xpter----Xp21.

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Year:  1988        PMID： 3177452     DOI： 10.1002/ajmg.1320300127

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  7 in total

1.  Non-specific X linked mental retardation with aphasia exhibiting genetic linkage to chromosomal region Xp11.

Authors:  G N Wilson; C S Richards; K Katz; G S Brookshire
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

Review 2.  X linked mental retardation.

Authors:  I A Glass
Journal:  J Med Genet       Date:  1991-06       Impact factor: 6.318

3.  Another dystonia.

Authors:  M W Partington
Journal:  J Med Genet       Date:  1998-10       Impact factor: 6.318

Review 4.  Clinical review of genetic epileptic encephalopathies.

Authors:  Grace J Noh; Y Jane Tavyev Asher; John M Graham
Journal:  Eur J Med Genet       Date:  2012-01-25       Impact factor: 2.708

5.  Construction of a YAC contig and an STS map spanning 3.6 megabase pairs in Xp22.1.

Authors:  D Trump; G Pilia; P H Dixon; C Wooding; R Thakrar; S E Leigh; R Nagaraja; M P Whyte; D Schlessinger; R V Thakker
Journal:  Hum Genet       Date:  1996-01       Impact factor: 4.132

6.  A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.

Authors:  Aimé Lumaka; Valerie Race; Hilde Peeters; Anniek Corveleyn; Zeynep Coban-Akdemir; Shalini N Jhangiani; Xiaofei Song; Gerrye Mubungu; Jennifer Posey; James R Lupski; Joris R Vermeesch; Prosper Lukusa; Koenraad Devriendt
Journal:  Am J Med Genet A       Date:  2018-08-08       Impact factor: 2.802

7.  The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.

Authors:  Aurore Curie; Tatjana Nazir; Amandine Brun; Yves Paulignan; Anne Reboul; Karine Delange; Anne Cheylus; Sophie Bertrand; Fanny Rochefort; Gérald Bussy; Stéphanie Marignier; Didier Lacombe; Catherine Chiron; Mireille Cossée; Bruno Leheup; Christophe Philippe; Vincent Laugel; Anne De Saint Martin; Silvia Sacco; Karine Poirier; Thierry Bienvenu; Isabelle Souville; Brigitte Gilbert-Dussardier; Eric Bieth; Didier Kauffmann; Philippe Briot; Bénédicte de Fréminville; Fabienne Prieur; Michel Till; Caroline Rooryck-Thambo; Isabelle Mortemousque; Isabelle Bobillier-Chaumont; Annick Toutain; Renaud Touraine; Damien Sanlaville; Jamel Chelly; Sonya Freeman; Jian Kong; Nouchine Hadjikhani; Randy L Gollub; Alice Roy; Vincent des Portes
Journal:  Orphanet J Rare Dis       Date:  2014-02-14       Impact factor: 4.123
  7 in total

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