Clinical and biochemical characteristics
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Eva Morava; Richard J. Rodenburg; Frans Hol; Maaike de Vries; Antoon Janssen; La
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Article
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2006
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John Wiley and Sons
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English
⚖ 117 KB
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We retrospectively analyzed the clinical, histological, and biochemical data of 11 children, five of which carried the maternally-inherited mitochondrial T8993C and six carrying the T8993G point mutations in the ATP synthase 6 gene. The percentage of heteroplasmy was 95% or higher in muscle and in b