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Hereditary motor and sensory neuropathy - Lom (HMSNL): Refined genetic mapping in Romani (Gypsy) families from several European countries
- 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.
- Subjects :
- Adult
Male
Roma
Adolescent
Genotype
DNA Mutational Analysis
Biology
Gene mapping
medicine
Humans
Child
Genetics (clinical)
Genetics
Chromosome Mapping
Middle Aged
medicine.disease
Pedigree
Clinical neurology
Europe
Phenotype
Haplotypes
Neurology
Pediatrics, Perinatology and Child Health
Disease Progression
Demyelinating neuropathy
Microsatellite
Female
Neurology (clinical)
Hereditary Sensory and Motor Neuropathy
Hereditary motor and sensory neuropathy
Subjects
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.