Gene/
Family
Mutation
GDAP1
AAO
ALE
SAO
Mobility
Foot
deformity
cmt1226.01
intr5-ex6
deletion
cmt239
intr5-ex6
deletion
>18m
20y
Distal
weakness
No
55y
Abnormal,
walking,
aids used
Abnormal
walking,
aids used
Pes cavus
>18m
Delayed motor
milestones, foot
deformity
Frequent falls
Pes cavus
Distal
weakness
Hypophonia,
hoarseness,
pectus
carinatum
cmt131
intr5-x6
deletion
14 m
8y
Distal
weakness,
distal areflexia
No
PN1015
p.S34Ffs*16
5y
5y
cmt851
p.N227D
4y,
20y,
10y
23y
<12m
9y
cmt1107
p.Y280*
Delayed walking, Abnormalw Pes equinohammer toes
alking, foot
varus
drop,
cannot run
Frequent falls,
walking
difficulties,
walking on
tiptoes
Club feet, gait
abnormalities
Delayed motor
milestones, distal
atrophy legs
UL
Additional
involvement features
Normal
Pes cavus
No
No
Abnormal
walking, no
aids
required
Pes cavus
Distal
weakness
No
Bilateral
foot drop
No, surgical
Marked
lengthening atrophy hand
Achilles
intrinsics, distal
tendons
No
Nerve pathology
NCS-motor
NCSsensory
ND
IE
CVu=24.2,
L=4.1, A=2.3
Severe loss of
CVm=6
myelinated fibres,
with some thinly
myelinated and
demyelinated fibres
and onion bulbs
Loss of large
CVu=45,
myelinated fibers,
L=2.7,A=0.2;
numerous small and
CVr=44,
thinly myelinated
L=6.5, A=0.3
axons, onion bulbs
Tibial and
and cluster formation
peroneal
motor
nerves - IE
Demyelinating with
CVm=29
axonal degeneration
components
ND
ND
CVm=37.9;
L=4.1; A=3.0
CVm=43.9;
L=3.9; A=4.3
CVm=50,
L=3.10,
A=1.3;
CVu=44.3,
L=2.15,
A=0.4
IE
Median,
ulnar and
sural
sensory
nerves - IE
CVm=33
CVm=ND,
L=3.0, A=3.7
CVm=ND,
A=5.8
ND
SH3TC2
cmt1236
p.A639Pfs*6
12y
34y
Tremor, ataxia
cmt1224
p.L780P
7y
48y
cmt1147
p.Q1068*
2.5 y
2.5y
-
-
-
3y,
13y
Weakness
5y
20y
Hypotonia,
weakness
Bilateral
foot drop
Walking difficulty Abnormal
walking,
bilateral
foot drop,
no aids
required
Delayed motor
Abnormal
milestones,
walking, no
Frequent falls,
aids
difficulty in going
required
up and
downstairs
Pes cavus,
Distal
hammer toes weakness with
atrophy
Tremor,
bilateral
horizontal
nystagmus,
titubation of
the head with
cerebellar
dysmetria not
worsening with
eye closure;
normal cranial
MRI
Kyphoscoliosis
(15y) in both
patients
ND
CVm=10.3
IE
ND
CVm=40,
L=3.4, A=8
CVm=48,
L=2.9, A=4.7
Pes cavus
Distal
weakness
No
Distal
weakness
No
ND
CVp=24.4,
L=19.4, A=6.9
CVm=IE;
CVs=IE;
CVu=24.8,
L=3.5, A= 2.1
-
-
-
-
CVm=27.2
ND
CVm=13.0,
L=23.5,
A=0.2
IE
CVm=11.0,
L=36.2,
A=0.2
IE
SBF2
cmt1240
c.862-2A>G
cmt1083
p.S125P
Abnormal
Pes cavus
Hand muscle
Congenital
walking, no
weakness and
glaucoma
aids
severe
required
amyotrophy
Abnormal
Pes
Hand muscle Hypophonia
walking,
equinovalgus weakness and
no aids
severe
required
amyotrophy
MTMR2
cmt1242
c.358-2A>T
cmt1250
p.L448P
>18m
10y
Abnormal Pes cavus (4y)
walking
Abnormal
Pes planus
walking
Distal
weakness
Distal
weakness
Bulbar
dysfunction
Hypophonia,
facial diplegia,
respiratory
insufficiency
and stridor,
severe distal
weakness,
microcephaly
Tomacula
4y
Delayed motor
milestones
Poor sucking,
delayed motor
milestones
At birth
CVm=14.9,
L=5.7, A=0.9
Demyelinati
ng
IE
2nd
decade
28y
-
Distal and
proximal
weakness
Cerebellar
dysfunction,
scoliosis
>18m
14y
Distal weakness
in LL, delayed
motor milestones
Abnormal
Pes cavus
walking, no
aids
required
Normal Pes cavus (2y)
ND
CVm=9,
L=8.3, A=1
IE
Distal
weakness
No
ND
CVm=9.2,
L=34.4,
A=0.7
IE
-
-
FGD4
cmt1254
p.K630Nfs*5
cmt1249
p.W591*
Supplementary Table 2. Clinical characteristics of patients with novel mutations. AAO, age at onset; ALE, age at last examination;
SAO, symptoms at onset; UL, upper limbs; LL, lower limbs; m, months; y, years; -, information not available; ND – not done; NCS =
nerve conduction studies; CVm, conduction velocity of median nerve (in meter per second); CVu, conduction velocity of ulnar nerve
(in meter per second); CVs, conduction velocity of sural nerve (in meter per second); CVp, conduction velocity of peroneal nerve (in
meter per second); CVr, conduction velocity of radial nerve (in meter per second); A, amplitude (motor: in milivolt; sensory: in
microvolt); L – latency (in milisecons); IE, inexcitable.