Table 1 The clinical features of two probands in MME gene related dHMN

Gender

Female

Female

Family history

+

-

Age at onset

58

51

Age at examination

63

56

Symptoms at onset

Weakness of LL

Weakness of LL

Abnormal gait

Steppage gait

Steppage gait

Muscle wasting

Upper limbs

-

-

Lower limbs

+

+

Muscle weakness

Upper limbs

proximal limbs

4

5

distal limbs

4

5

Lower limbs

proximal limbs

3+

5-

distal limbs

2

3

Babinski reflexes

+

-

Knee reflexes

+

+

Ankle reflexes

+

-

Sensory symptoms

-

-

Mutation

Nucleotide

c.2122 A > T

c.1342 C > T&c.2071_2072delinsTT

Amino acid

p.K708*

p.R448*&p.A691L

Electrophysiological examination

Motor neuropathy with mild sensory nerve involvement

Motor neuropathy