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Table 1 Characteristics of symptomatic ATTR patients with the Glu54Gln mutation

From: Clinical characteristics in patients with hereditary amyloidosis with Glu54Gln transthyretin identified in the Romanian population

Patient [family]

Age at diagnosis

Diagnosis (year)

Mean time from diagnosis to onset (months)

Symptoms at onset

Peripheral nervous system dysfunction

Autonomic dysfunction

Cardiac features

Alive/deceased

1 [A]

48

2005

36

CTS

Paresthesia

SM-PN

CTS

OHT

Dysphagia

Diarrhea

HF

Deceased

2 [B]

43

2008

36

CTS

CTS

HF

Deceased

3 [C1*]

35

2012

11

HF

Weight loss

Paresthesia

Paresthesia

Diarrhea

OHT

HF

1st degree AV block

Deceased

4 (C2*)

49

2017

24

Paresthesia

Weight loss

SM-PN

OHT

Constipation

HF

1st degree AV block

SVES

RBBB

pericardial effusion

Alive

5 [D]

51

2016

48

Diarrhea

Weight loss

SM-PN

Diarrhea

OHT

HF

AF

Alive

6 [E1*]

52

2017

9

Paresthesia

Weight loss

SM-PN

CTS

Constipation

OHT

HF

RBBB

Alive

7 [E2*]

47

2017

24

Paresthesia

Weight loss

SM-PN

Constipation

OHT

Alive

8[E3**]

47

2017

7

Paresthesia

SM-PN

CTS

SVES

Alive

9 [F]

49

2017

36

Paresthesia

SM-PN

CTS

HF

1st degree AV block

AF

Alive

10 [G]

49

2017

60

Paresthesia

SM-PN

CTS

Constipation

HF

Trifascicular block

Pericardial effusion

Alive

11 [H]

42

2018

6

Weight loss

Gastroparesis

S-PN

CTS

OHT

Gastroparesis

Diarrhea/constipation

HF

3rd degree AV block

NSVT

RBBB

Alive

12 [I1*]

41

2017

48

Paresthesia

CTS

Weight loss

SM-PN

Constipation

OHT

Urinary dysfunction

HF

RBBB

Alive

13 [I2*]

46

2017

60

Paresthesia

Weight loss

SM-PN

OHT

HF

Alive

  1. AF atrial fibrillation, CTS carpal tunnel syndrome, HF heart failure, NSVT non-sustained ventricular tachycardia, OHT orthostatic hypotension, RBBB right bundle branch block, S-PN sensory polyneuropathy, SM-PN sensory motor polyneuropathy, SVES supraventricular
  2. Letters A–I denote each family
  3. *Siblings
  4. **First cousins