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Table 1 Summarizes the characteristics of genotype and phenotype in all patients from three families

From: Characterization of genotype–phenotype correlation with MORC2 mutated Axonal Charcot–Marie–Tooth disease in a cohort of Chinese patients

Patients ID

Nucleotide change

AA change

Sex

Age (y) at Onset

Age (y) at Exam

F H

Initial symptoms

Clinical features

Proximal involvement

Laterality

Muscle strength

Sensory loss

Tendon reflex

CMTNS

Additional features

UL

LL

UL

LL

UL

LL

Family 1 IV 9

c.1397A>G

p.D466G

F

36

46

AD

Numbness in hands

Hands weakness and atrophy, Gait difficulties, Distal dysaesthesia, Foot drop

No

Left

4-/D

4/D

P, T, V/D

P, T, V/D

Decreased

Absent

18

Hands tremor hyperCKemia (1037 IU/L)

Family 1 III 5

  

M

30

68

 

Weakness in hands

Weakness and atrophy in distal limbs, Distal dysaesthesia, Pes cavus, Foot drop

Yes

4/P; 3/D

3/P; 2/D

P, T, V/D

P, T, V/D

Absent

Absent

32

hyperCKemia (958 IU/L)

Family 1 IV 7

  

F

27

51

 

Weakness in hands

Weakness and atrophy in distal limbs, Distal dysaesthesia, Pes cavus, Foot drop

Yes

Left

4+/P; 4-/D

4+/P; 4-/D

P, T, V/D

P, T, V/D

Decreased

Absent

29

Hands tremor hyperCKemia (869 IU/L)

Family 1 IV 11

  

F

28

38

 

Numbness in hands

Weakness and atrophy in distal limbs, Distal dysaesthesia, Foot drop

No

4/D

4/D

P, T, V/D

P, T, V/D

Decreased

Absent

25

Hands tremor hyperCKemia (736 IU/L)

Family 1 

V 2

  

F

25

27

 

Hands tremor

Hands weakness and atrophy, Gait difficulties, Distal dysaesthesia

No

4/D

4/D

P, T, V/D

P, T, V/D

Decreased

Decreased

14

HyperCKemia (1639 IU/L)

Family 1 

V 3

  

M

19

19

 

Slight weakness and atrophy in both hands

No

4+/D

4+/D

P, T/D

P, T/D

Decreased

Decreased

4

HyperCKemia (495 IU/L)

Family 2 II 1

c.260C>T

p.S87L

F

< 1

7

SF

Motor develop delay

Generalized weakness and atrophy, Dysarthria Scoliosis, Claw hand, Flat feet

Yes

3/P; 4/D

2/P; 2/D

P, T, V/D

P, T, V/D

Absent

Absent

31

Cerebellar hypoplasia, mental retardation

Family 3 II 2

c.754C>T

p.R252W

F

< 1

10

SF

Motor develop delay

Weakness in distal lower limbs, Steppage gait, Pes cavus, Strephenopodia

No

5/D

4/D

P, T/D

P, T/D

Decreased

Absent

10

Family 3 II 3

  

F

6

10

SF

Foot deformity

Mild gait disturbance, Pes cavus, Strephenopodia

No

5/D

4+/D

Decreased

Decreased

2

Family 4 II 2

c.1220G>A

p.C407Y

M

6

19

SF

Motor difficulty

Weakness and atrophy in distal limbs, Distal dysaesthesia, Pes cavus, Hammer toes

No

4/D

3+/P; 2/D

P, T/D

P, T/D

Decreased

Decreased

20

  1. F = Female; M = Male; CMTNS = Charcot–Marie–Tooth neuropathy score; FH = Family History; AD = autosomal dominant inheritance; SF = Sporadic families; UL = Upper limbs; LL = Lower limbs; P = Proximal; D = Distal; P = pinprick; V = vibratory; T = Touch