mtDNA single macrodeletions associated with myopathies: Absence of haplogroup‐related increased risk

• Published in: Journal of inherited metabolic disease Vol. 28; no. 5; pp. 769 - 778
• Main Authors: Goios, A., Nogueira, C., Pereira, C., Vilarinho, L., Amorim, A., Pereira, L.
• Format: Journal Article
• Language: English
• Published: Dordrecht Kluwer Academic Publishers 01.01.2005; Springer; Blackwell Publishing Ltd
• Subjects: Adolescent; Adult; Aged; Animals; Biological and medical sciences; Child; DNA, Mitochondrial - genetics; Female; Gene Deletion; Genetic Variation; Genome; Haplotypes; Humans; Infant, Newborn; Male; Medical genetics; Medical sciences; Metabolic diseases; Middle Aged; Mitochondrial Myopathies - genetics; Muscular Diseases - genetics; Muscular Diseases - pathology; Mutation; Polymorphism, Genetic; Risk; Association; Nutrition; Risk factor; Genetics; Metabolic diseases; Risk; Mitochondrial DNA; Epidemiology; Genetic disease; Myopathy

Summary 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...