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