MtDNA single macrodeletions associated with myopathies: absence of haplogroup-related increased risk

As for any non-recombining genome, any mutation at mtDNA, if not recurrent, appears on a particular haplotype background, allowing its detection by haplogroup association studies. It has been shown that the propensity for occurrence of single macrodeletions at a level beyond the pathological thresho...

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Bibliographic Details
Main Author: Goios, A (author)
Other Authors: Nogueira, C (author), Pereira, C (author), Vilarinho, L (author), Amorim, A (author), Pereira, L (author)
Format: article
Language:eng
Published: 2005
Subjects:
Adolescent
Adult
Aged
Animals
Child
DNA Mitochondrial/genetics
Female
Gene Deletion
Genetic Variation
Genome
Haplotypes
Humans
Infant Newborn
Male
Middle Aged
Mitochondrial Myopathies/genetics
Muscular Diseases/genetics
Muscular Diseases/pathology
Mutation
Polymorphism Genetic
Risk
Online Access:http://hdl.handle.net/10216/109580
Country:Portugal
Oai:oai:repositorio-aberto.up.pt:10216/109580

Internet

http://hdl.handle.net/10216/109580

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