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

Authors :
Dušan Butinar
Luciano Merlini
Jon Andoni Urtizberea
Axinia Corches
Thomas Voit
David Gresham
Rebecca Gooding
Alexei Savov
P. K. Thomas
Martina Baethmann
Luba Kalaydjieva
Vania Nedkova
Jaume Colomer
Luchezar Karagyozov
Dora Angelicheva
Amelia Nikolova
Roos de Jonge
Brigitte Chabrol
Rosalind H.M. King
David Chandler
Karin Blechschmidt
Boryana Ishpekova
Danielle E. Dye
Peter Yanakiev
Ivailo Tournev
Bronya J.B. Keats
Lisa Heather
Frank Baas
Arnold Starr
Other departments
Source :
Chandler, D; Angelicheva, D; Heather, L; Gooding, R; Gresham, D; Yanakiev, P; et al.(2000). Hereditary motor and sensory neuropathy-Lom (HMSNL): Refined genetic mapping in Romani (Gypsy) families from several European countries. Neuromuscular Disorders, 10(8), 584-591. doi: 10.1016/S0960-8966(00)00148-6. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/3dj3g474, Neuromuscular disorders, 10(8), 584-591. Elsevier Limited
Publication Year :
2000
Publisher :
eScholarship, University of California, 2000.

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. (C) 2000 Elsevier Science B.V.

Details

Language :
English
ISSN :
09608966
Database :
OpenAIRE
Journal :
Chandler, D; Angelicheva, D; Heather, L; Gooding, R; Gresham, D; Yanakiev, P; et al.(2000). Hereditary motor and sensory neuropathy-Lom (HMSNL): Refined genetic mapping in Romani (Gypsy) families from several European countries. Neuromuscular Disorders, 10(8), 584-591. doi: 10.1016/S0960-8966(00)00148-6. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/3dj3g474, Neuromuscular disorders, 10(8), 584-591. Elsevier Limited
Accession number :
edsair.doi.dedup.....c8658d2d40d920c0fc59c9241dbf8db6
Full Text :
https://doi.org/10.1016/S0960-8966(00)00148-6.