Increased risk of sensorineural hearing loss and migraine in patients with a rare mitochondrial DNA variant 4336A>G in tRNAGln

By contrast, deleterious mutations have arisen repeatedly and occur against various genomic backgrounds. Since they reduce the fitness of carriers, however, the affected maternal lineages eventually become extinct. Patients with diabetes mellitus, epilepsy, sensorineural hearing loss, occipital stro...

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Veröffentlicht in:Journal of medical genetics 2001-06, Vol.38 (6), p.400-405
Hauptverfasser: Finnilä, Saara, Autere, Jaana, Lehtovirta, Maarit, Hartikainen, Päivi, Mannermaa, Arto, Soininen, Hilkka, Majamaa, Kari
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Sprache:eng
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Zusammenfassung:By contrast, deleterious mutations have arisen repeatedly and occur against various genomic backgrounds. Since they reduce the fitness of carriers, however, the affected maternal lineages eventually become extinct. Patients with diabetes mellitus, epilepsy, sensorineural hearing loss, occipital stroke, ophthalmoplegia, intracranial calcification, white matter disease, ataxia, and migraine were ascertained as described previously. 8-11 The patients with diabetes mellitus, epilepsy, or sensorineural hearing loss had a family history of similar diseases in maternal relatives.
ISSN:0022-2593
1468-6244
DOI:10.1136/jmg.38.6.400