Table 1 RFLP and control-region mtDNA haplotypes from the French A3243G carriers. The patients were regrouped in three major phenotypes (Clear MELAS Syndrome, Partial MELAS syndrome and Diabetes Syndrome).

1

1

H

-7025AluI

16304,

clear MELAS syndrome

2

1

H

-7025AluI

16304,

Partial MELAS syndrome

3

1

H

-7025AluI

16304,

clear MELAS syndrome

4

2

H

-7025AluI

16354,

Diabetes Syndrome

5

2

H

-7025AluI

16354,

Diabetes Syndrome

6

3

H

-7025AluI

16519,

Partial MELAS syndrome

7

3

H

-7025AluI

16519,

Diabetes Syndrome

8

3

H

-7025AluI

16519,

clear MELAS syndrome

9

3

H

-7025AluI

16519,

Diabetes Syndrome

10

3

H

-7025AluI

16519,

Diabetes Syndrome

11

3

H

-7025AluI

16519,

clear MELAS syndrome

12

3

H

-7025AluI

16519,

Partial MELAS syndrome

13

3

H

-7025AluI

16519,

clear MELAS syndrome

14

3

H

-7025AluI

16519,

clear MELAS syndrome

15

3

H

-7025AluI

16519,

Partial MELAS syndrome

16

3

H

-7025AluI

16519,

Diabetes Syndrome

17

3

H

-7025AluI

16519,

clear MELAS syndrome

18

3

H

-7025AluI

16519,

Diabetes Syndrome

19

4

H

-7025AluI

16094,16278,16293,16311,195,

clear MELAS syndrome

20

5

H

-7025AluI

16114,16293,16311,16354,16519,195,

clear MELAS syndrome

21

5

H

-7025AluI

16114,16293,16311,16354,16519,195,

Diabetes Syndrome

22

6

H

-7025AluI

16126,16274,16519,

Diabetes Syndrome

23

7

H

-7025AluI

16126,16311,16519,

Diabetes Syndrome

24

8

H

-7025AluI

16126,16519,198,

clear MELAS syndrome

25

9

H

-7025AluI

16129,16316,16519,

Partial MELAS syndrome

26

10

H

-7025AluI

16129,16362,16482,16519,

Partial MELAS syndrome

27

11

H

-7025AluI

16129,16519,

Diabetes Syndrome

28

12

H

-7025AluI

16129,16519,10,

Partial MELAS syndrome

29

13

H

-7025AluI

16129,16519,10,189,

clear MELAS syndrome

30

14

H

-7025AluI

16129,16519,152,

clear MELAS syndrome

31

15

H

-7025AluI -12308HinfI; -4216NlaIII; +4577NlaIII

16162,16209,16519,73,

Diabetes Syndrome

32

16

H

-7025AluI

16166delA,

Diabetes Syndrome

33

17

H

-7025AluI

16169,16299,16519,

Diabetes Syndrome

34

18

H

-7025AluI

16183C,16189,16519,

clear MELAS syndrome

35

19

H

-7025AluI

16189,195,

Partial MELAS syndrome

36

19

H

-7025AluI

16189,195,

clear MELAS syndrome

37

19

H

-7025AluI

16189,195,

clear MELAS syndrome

38

20

H

-7025AluI

16213,16256,16519,9,

Partial MELAS syndrome

39

21

H

-7025AluI

16221,16519,

Partial MELAS syndrome

40

22

H

-7025AluI

16260,16357,16519,

Diabetes Syndrome

41

22

H

-7025AluI

16260,16357,16519,

Partial MELAS syndrome

42

23

H

-7025AluI

16261,16519,

clear MELAS syndrome

43

24

H

-7025AluI -12308HinfI; -4216NlaIII; +4577NlaIII

16278,16519,73,

Partial MELAS syndrome

44

25

H

-7025AluI

16290,16304,16519,

Diabetes Syndrome

45

26

H

-7025AluI

16290,16519,152,

Diabetes Syndrome

46

27

H

-7025AluI

16293,16519,

Diabetes Syndrome

47

27

H

-7025AluI

16293,16519,

Diabetes Syndrome

48

28

H

-7025AluI

16304,16325,

clear MELAS syndrome

49

29

H

-7025AluI

16311,16519,

Diabetes Syndrome

50

29

H

-7025AluI

16311,16519,

Diabetes Syndrome

51

29

H

-7025AluI

16311,16519,

Diabetes Syndrome

52

30

H

-7025AluI

16311,16519,93,

Diabetes Syndrome

53

31

H

-7025AluI

16362,16482,

clear MELAS syndrome

54

32

H

-7025AluI

16362,16482,16519,152,

Partial MELAS syndrome

55

33

H

-7025AluI

16519,143,152,

Partial MELAS syndrome

56

34

H

-7025AluI

16519,151,152,

Partial MELAS syndrome

57

34

H

-7025AluI

16519,151,152,

Partial MELAS syndrome

58

35

H

-7025AluI

16519,152,199,

Partial MELAS syndrome

59

35

H

-7025AluI

16519,152,199,

Partial MELAS syndrome

60

36

H

-7025AluI

16519,56i,93,

Diabetes Syndrome

61

37

H

-7025AluI -12308HinfI; -4216NlaIII; +4577NlaIII

16519,73,

clear MELAS syndrome

62

38

H

-7025AluI

16519,93,95C,

Partial MELAS syndrome

63

39

H

-7025AluI

93,204,

Partial MELAS syndrome

64

39

H

-7025AluI

93,204,

Diabetes Syndrome

65

40

H

-7025AluI

RCRS,

Diabetes Syndrome

66

40

H

-7025AluI

RCRS,

clear MELAS syndrome

67

41

R0*

+7025AluI -12308HinfI; -4216NlaIII; +4577NlaIII

16311,

Partial MELAS syndrome

68

42

R0*

+7025AluI -12308HinfI; -4216NlaIII; +4577NlaIII

16311,16354,

clear MELAS syndrome

69

43

R0a

+7025AluI +4577NlaIII

16126,16362,16519,64,

clear MELAS syndrome

70

44

V

+7025AluI -4577NlaIII

16086,16298,72,73,

Diabetes Syndrome

71

45

V

+7025AluI -4577NlaIII

16129,16298,16311,72,195,

Partial MELAS syndrome

72

46

V

+7025AluI -4577NlaIII

16162,16298,

clear MELAS syndrome

73

47

V

+7025AluI -4577NlaIII

16278,16298,72,

clear MELAS syndrome

74

48

V

+7025AluI -4577NlaIII

16292,16298,72,195,

Diabetes Syndrome

75

49

V

+7025AluI -4577NlaIII

16298,16301,72,

Partial MELAS syndrome

76

50

V

+7025AluI -4577NlaIII

16298,16311,72,

clear MELAS syndrome

77

51

V

+7025AluI -4577NlaIII

16298,72,

clear MELAS syndrome

78

52

V

+7025AluI -4577NlaIII

16298,72,200,

clear MELAS syndrome

79

53

V

+7025AluI -4577NlaIII

16298,72,93,

Diabetes Syndrome

80

54

HV0*

+7025AluI +4577NlaIII

16129,16298,72,195,

Diabetes Syndrome

81

55

HV0*

+7025AluI +4577NlaIII

16298,72,195,

Diabetes Syndrome

82

56

T1

+7025AluI +4216NlaIII; +13704BstOI

16126,16163,16186,16189,16294,16304,16519,73,152,195,

clear MELAS syndrome

83

57

T1

+7025AluI +4216NlaIII; +13704BstOI

16126,16163,16186,16189,16294,16355,16356,16519,73,

clear MELAS syndrome

84

58

T

+7025AluI +4216NlaIII; +13704BstOI

16126,16147,16294,16296,16297,16304,16519,73,

clear MELAS syndrome

85

59

T

+7025AluI +4216NlaIII; +13704BstOI

16126,16153,16294,16390,16519,41,73,150,

Diabetes Syndrome

86

60

T

+7025AluI +4216NlaIII; +13704BstOI

16126,16172,16294,16296,16304,16519,73,

Diabetes Syndrome

87

61

T

+7025AluI +4216NlaIII; +13704BstOI

16126,16189,16292,16294,16519,73,146,

Diabetes Syndrome

88

62

T

+7025AluI +4216NlaIII; +13704BstOI

16126,16266,16294,16304,16519,73,

clear MELAS syndrome

89

63

T

+7025AluI +4216NlaIII; +13704BstOI

16126,16294,16296,16304,16454,16455,16519,73,152,

Diabetes Syndrome

90

64

T

+7025AluI +4216NlaIII; +13704BstOI

16126,16294,16296,16304,16519,73,

Diabetes Syndrome

91

65

T

+7025AluI +4216NlaIII; +13704BstOI

16126,16294,16296,16304,16519,73,146,

Partial MELAS syndrome

92

66

T

+7025AluI +4216NlaIII; +13704BstOI

16126,16294,16296,16519,73,

Partial MELAS syndrome

93

67

T

+7025AluI +4216NlaIII; +13704BstOI

16126,16294,16304,16519,73,

clear MELAS syndrome

94

68

T

+7025AluI +4216NlaIII; +13704BstOI

16126,16294,16519,73,146,152,

Partial MELAS syndrome

95

69

J

+7025AluI +4216NlaIII; -13704BstOI

16069,16126,16234,16235,16519,73,185,188,

Partial MELAS syndrome

96

69

J

+7025AluI +4216NlaIII; -13704BstOI

16069,16126,16234,16235,16519,73,185,188,

Diabetes Syndrome

97

70

J

+7025AluI +4216NlaIII; -13704BstOI

16069,16126,16366,16390,16519,73,185,188,

clear MELAS syndrome

98

71

U2

+7025AluI +12308HinfI

16051,16129,16189,16256,16519,73,152,

Partial MELAS syndrome

99

72

U2

+7025AluI +12308HinfI

16051,16129C,16183C,16189,16319,16362,16519,73,152,

Diabetes Syndrome

100

73

U2

+7025AluI +12308HinfI

16051,16129C,16183C,16189,16355,16362,16519,73,152,

Diabetes Syndrome

101

74

U2

+7025AluI +12308HinfI

16051,16183C,16189,16234,16266,16294,16519,16525,16558,73,152,199,

Diabetes Syndrome

102

75

U2

+7025AluI +12308HinfI

16051,16183C,16189,16234,16266,16294,16519,16525,73,152,199,

clear MELAS syndrome

103

76

K

+7025AluI +12308HinfI

16093,16224,16260,16311,16519,44,73,

Partial MELAS syndrome

104

77

K

+7025AluI +12308HinfI

16093,16224,16311,16319,16519,73,195,

Diabetes Syndrome

105

78

K

+7025AluI +12308HinfI

16114A,16224,16311,16362,16519,73,195,

Diabetes Syndrome

106

79

K

+7025AluI +12308HinfI

16223,16224,16234,16311,16519,73,114,

clear MELAS syndrome

107

80

K

+7025AluI +12308HinfI

16224,16311,16519,64,73,146,152,

Diabetes Syndrome

108

81

K

+7025AluI +12308HinfI

16224,16311,16519,73,

Diabetes Syndrome

109

82

K

+7025AluI +12308HinfI

16224,16311,16519,73,146,

clear MELAS syndrome

110

83

K

+7025AluI +12308HinfI

16224,16311,16519,73,146,152,

Diabetes Syndrome

111

84

K

+7025AluI +12308HinfI

16224,16311,16519,73,146,185,

Partial MELAS syndrome

112

85

K

+7025AluI +12308HinfI

16224,16311,16519,73,146,195,

clear MELAS syndrome

113

85

K

+7025AluI +12308HinfI

16224,16311,16519,73,146,195,

clear MELAS syndrome

114

86

U5

+7025AluI +12308HinfI

16148,16239,16270,73,150,

Diabetes Syndrome

115

87

U5

+7025AluI +12308HinfI

16150,16172,16185,16189delT,16270,16274,16311,16465,16519,73,150,152,

Partial MELAS syndrome

116

88

U5

+7025AluI +12308HinfI

16168,16192,16256,16270,16526,73,

Partial MELAS syndrome

117

89

U5

+7025AluI +12308HinfI

16189,16192,16270,16398,73,150,

Diabetes Syndrome

118

90

U5

+7025AluI +12308HinfI

16192,16256,16270,16278,16294,16391,16526,64,73,

Diabetes Syndrome

119

91

U5

+7025AluI +12308HinfI

16192,16270,16319,16526,73,150,

Partial MELAS syndrome

120

92

U5

+7025AluI +12308HinfI

16192,16270,16319,73,150,

Diabetes Syndrome

121

93

U5

+7025AluI +12308HinfI

16256,16270,16399,73,

clear MELAS syndrome

122

94

U5

+7025AluI +12308HinfI

16270,16296,58,59G,64,73,150,200,

clear MELAS syndrome

123

95

U4

+7025AluI +12308HinfI

16219,16356,16519,73,195,

clear MELAS syndrome

124

95

U4

+7025AluI +12308HinfI

16219,16356,16519,73,195,

Diabetes Syndrome

125

95

U4

+7025AluI +12308HinfI

16219,16356,16519,73,195,

Diabetes Syndrome

126

96

U4

+7025AluI +12308HinfI

16295,16356,16519,73,195,

Diabetes Syndrome

127

97

U4

+7025AluI +12308HinfI

16356,16519,73,146,195,

clear MELAS syndrome

128

98

U4

+7025AluI +12308HinfI

16356,16519,73,195,

clear MELAS syndrome

129

99

U5

+7025AluI +12308HinfI

16189,16192,16270,16311,16336,55,73,150,

clear MELAS syndrome

130

100

X

+7025AluI +14465AccI

16129,16189,16223,16278,16290,16362,16519,73,153,195,

clear MELAS syndrome

131

101

X

+7025AluI +14465AccI

16186,16189,16223,16278,16297,16519,73,153,195,

Diabetes Syndrome

132

102

X

+7025AluI

16186,16189,16223,16278,16519,73,153,188,195,

Partial MELAS syndrome

133

103

I

+7025AluI -4529HaeII

16129,16223,16304,16391,16519,73,199,204,

Diabetes Syndrome

134

103

I

+7025AluI -4529HaeII

16129,16223,16304,16391,16519,73,199,204,

Partial MELAS syndrome

135

104

N1b

+7025AluI

16145,16176G,16223,16390,16519,73,151,152,

clear MELAS syndrome

136

105

N1a

+7025AluI

16147A,16172,16223,16248,16355,16519,73,199,204,

clear MELAS syndrome

137

106

L2

+7025AluI

16129,16189,16192,16223,16274,16278,16294,16309,16390,73,143,146,152,195,

Diabetes Syndrome

138

107

L2

+7025AluI

16183C,16189,16223,16266,16274,16278,16390,16519,73,152,195,

Partial MELAS syndrome

139

108

D

+7025AluI -12308HinfI

16221,16223,16291,16362,16390,16519,73,

clear MELAS syndrome

140

109

W

+7025AluI -8994HaeIII

16223,16280,16292,16519,73,119,189,195,204,

clear MELAS syndrome

141

110

D

+7025AluI

16223,16295,16362,16519,73,146,199,

Diabetes Syndrome

142

111

I

+7025AluI -4529HaeII

16223,16311,16391,16519,73,199,204,

clear MELAS syndrome