Literature DB >> 11053686

Hereditary motor and sensory neuropathy--Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries.

D Chandler1, D Angelicheva, L Heather, R Gooding, D Gresham, P Yanakiev, R de Jonge, F Baas, D Dye, L Karagyozov, A Savov, K Blechschmidt, B Keats, P K Thomas, R H King, A Starr, A Nikolova, J Colomer, B Ishpekova, I Tournev, J A Urtizberea, L Merlini, D Butinar, B Chabrol, T Voit, M Baethmann, V Nedkova, A Corches, L Kalaydjieva.   

Abstract

Hereditary motor and sensory neuropathy type Lom, initially identified in Roma (Gypsy) families from Bulgaria, has been mapped to 8q24. Further refined mapping of the region has been undertaken on DNA from patients diagnosed across Europe. The refined map consists of 25 microsatellite markers over approximately 3 cM. In this collaborative study we have identified a number of historical recombinations resulting from the spread of the hereditary motor and sensory neuropathy type Lom gene through Europe with the migration and isolation of Gypsy groups. Recombination mapping and the minimal region of homozygosity reduced the original 3 cM hereditary motor and sensory neuropathy type Lom region to a critical interval of about 200 kb.

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Year:  2000        PMID: 11053686     DOI: 10.1016/s0960-8966(00)00148-6

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN: 0960-8966            Impact factor:   4.296


  5 in total

1.  N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom.

Authors:  L Kalaydjieva; D Gresham; R Gooding; L Heather; F Baas; R de Jonge; K Blechschmidt; D Angelicheva; D Chandler; P Worsley; A Rosenthal; R H King; P K Thomas
Journal:  Am J Hum Genet       Date:  2000-05-30       Impact factor: 11.025

2.  HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8.

Authors:  Dana Šafka Brožková; Jaroslava Paulasová Schwabová; Jana Neupauerová; Jana Sabová; Marcela Krůtová; Vladimír Peřina; Marie Trková; Petra Laššuthová; Pavel Seeman
Journal:  J Hum Genet       Date:  2016-12-22       Impact factor: 3.172

Review 3.  Neuropathology of Charcot-Marie-Tooth and related disorders.

Authors:  J Michael Schröder
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

4.  Mutation history of the roma/gypsies.

Authors:  Bharti Morar; David Gresham; Dora Angelicheva; Ivailo Tournev; Rebecca Gooding; Velina Guergueltcheva; Carolin Schmidt; Angela Abicht; Hanns Lochmuller; Attila Tordai; Lajos Kalmar; Melinda Nagy; Veronika Karcagi; Marc Jeanpierre; Agnes Herczegfalvi; David Beeson; Viswanathan Venkataraman; Kim Warwick Carter; Jeff Reeve; Rosario de Pablo; Vaidutis Kucinskas; Luba Kalaydjieva
Journal:  Am J Hum Genet       Date:  2004-08-20       Impact factor: 11.025

5.  Genetic studies of the Roma (Gypsies): a review.

Authors:  L Kalaydjieva; D Gresham; F Calafell
Journal:  BMC Med Genet       Date:  2001-04-02       Impact factor: 2.103

  5 in total

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