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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 diagnosisDiagnosis (year)Mean time from diagnosis to onset (months)Symptoms at onsetPeripheral nervous system dysfunctionAutonomic dysfunctionCardiac featuresAlive/deceased
1 [A]48200536CTS
Paresthesia
SM-PN
CTS
OHT
Dysphagia
Diarrhea
HFDeceased
2 [B]43200836CTSCTSHFDeceased
3 [C1*]35201211HF
Weight loss
Paresthesia
ParesthesiaDiarrhea
OHT
HF
1st degree AV block
Deceased
4 (C2*)49201724Paresthesia
Weight loss
SM-PNOHT
Constipation
HF
1st degree AV block
SVES
RBBB
pericardial effusion
Alive
5 [D]51201648Diarrhea
Weight loss
SM-PNDiarrhea
OHT
HF
AF
Alive
6 [E1*]5220179Paresthesia
Weight loss
SM-PN
CTS
Constipation
OHT
HF
RBBB
Alive
7 [E2*]47201724Paresthesia
Weight loss
SM-PNConstipation
OHT
Alive
8[E3**]4720177ParesthesiaSM-PN
CTS
SVESAlive
9 [F]49201736ParesthesiaSM-PN
CTS
HF
1st degree AV block
AF
Alive
10 [G]49201760ParesthesiaSM-PN
CTS
ConstipationHF
Trifascicular block
Pericardial effusion
Alive
11 [H]4220186Weight loss
Gastroparesis
S-PN
CTS
OHT
Gastroparesis
Diarrhea/constipation
HF
3rd degree AV block
NSVT
RBBB
Alive
12 [I1*]41201748Paresthesia
CTS
Weight loss
SM-PNConstipation
OHT
Urinary dysfunction
HF
RBBB
Alive
13 [I2*]46201760Paresthesia
Weight loss
SM-PNOHTHFAlive
  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