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Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation

✍ Scribed by Daniëlle de Vries; Ilse de Wijs; Wim Ruitenbeek; Jacobus Begeer; Peter Smit; Herman Bentlage; Bernard van Oost


Book ID
118931913
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
773 KB
Volume
124
Category
Article
ISSN
0022-510X

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Level of heteroplasmy for the mitochondr
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The mitochondrial mutation A3243G has been shown to be associated with a syndrome of diabetes mellitus and sensorineural hearing loss. Using a solid-phase-based sequencing method we have investigated the relation between the proportion of mutant mitochondrial genomes and the time of disease onset am