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Table 1 Clinical features of patients with specific variants in TP73

From: Lack of association of TP73 rare variants with amyotrophic lateral sclerosis in a Chinese cohort

Clinical feature

Patient 1

Patient 2

Patient 3

Patient 4

Patient 5

Variant

1:3599665_G_A

1:3599665_G_A

1:3624158_C_T

1:3644710_C_A

1:3647535_G_A

Hgvs_c

c.G107A

c.G107A

c.C232T

c.C1003A

c.G1241A

Hgvs_p

p.R36Q

p.R36Q

p.R78C

p.P335T

p.R414Q

Age at onset (years)

50

62

45

52

46

Sex

F

F

M

M

M

Fasciculation

No

No

No

Yes

Yes

Spasticity

No

No

No

No

No

Drug

No

No

No

No

No

Smoking

Now

No

No

No

No

Drinking

No

No

No

No

No

Sensory

Normal

Normal

Normal

Normal

Normal

Toxin

No

No

No

No

No

Onset site

Proximal lower limb

Proximal upper limb

Proximal upper limb

Proximal upper limb

Proximal upper limb

Onset symptom

Fatigue

Fatigue

Fatigue

Fatigue

Fatigue

Tongue Myoclonus

No

No

No

No

Yes

Tongue atrophy

No

No

Yes

No

Yes

Choking

No

No

Yes

No

No

Dysphagia

No

No

Yes

No

Yes

Dysarthria

No

No

Yes

No

Yes

Pharyngeal reflex

Normal

Normal

Hyporeflexia

Normal

Normal

Family history

No

No

No

No

No

  1. Genomic position was based on GRCh37
  2. F female, M male