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Table 1 Summary of clinical data in affected and unaffected subjects

From: Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel

Individual

c.103

Sex (M/F)

Onset

Distal weakness

DTR

Kinky hair

Foot deformity

Nystagmus

MRI white matter changes

Ataxia

Other features

Affected Individuals

 III:2*

T/T

M

1st decade

+++

- UE

-

Yes

No

N/A

No

Facial weakness. Speech difficulties

+ pat

- acill

 III:12

T/T

M

1st decade

+++

+

-

Yes

No

N/A

No

 

 IV:14

T/T

M

6y

++

+

-

Yes

No

No

No

 

 IV:15

T/T

M

6y

++

+

-

Yes

No

No

No

 

 IV:18

T/T

M

4y

+

++

curly

Yes

No

No

No

 

Unaffected Individuals

 III:1

G/G

F

-

-

++

-

No

No

N/A

No

 

 III:9

G/G

M

-

-

++

-

No

No

N/A

No

 

 III:11

G/T

M

-

 

++

-

No

No

N/A

No

 

 III:13

G/T

F

-

-

++

-

No

No

N/A

No

 

 IV:1

G/T

F

-

-

++

-

No

No

N/A

No

 

 IV:2

G/T

F

-

-

++

-

No

No

N/A

No

 

 IV:3

G/T

F

-

-

++

-

No

No

N/A

No

 

 IV:16

G/T

F

-

-

++

-

No

No

N/A

No

 

 IV:17

G/T

M

-

-

++

-

No

No

N/A

No

 
  1. *Individual III:2 is the father of individuals IV:14, IV:15, and IV:18 (see Fig. 1)
  2. DTR deep tendon reflexes, UE upper extremities, pat patella, acill Achilles, N/A not available