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Table 2 Mitochondrial DNA mutations from blood samples

From: Childhood mitochondrial encephalomyopathies: clinical course, diagnosis, neuroimaging findings, mtDNA mutations and outcome in six children

Patients

Clinical phenotype

DNA mutations

Mutation frequency

Patient’s mother’s mutation frequency

1

MELAS

m.3243A>G

34%

3.8%

2

MELAS

m.3243A>G

53%

3.8%

3

MELAS

m.3243A>G

47.4%

N

4

MELAS

m.3243A>G

47.6%

N

5

MELAS

m.3243A>G

32.3%

N

6

Leigh’s Syndrome

m.13513G>A

75%

30%

  1. MELAS = mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes.