|
Sex
|
Age
|
Mut
|
Phenotype
|
Onset
|
Fibrils
|
2nd fat Bx
|
Other Bx
|
Dx per
|
---|
1
|
F
|
74
|
V30M
|
PN, eye
|
Late
|
NA
|
−
|
CT+
|
CT Bx
|
2
|
M
|
67
|
V30M
|
PN
|
Late
|
NA
|
+
|
GI+
|
Fat/GI Bx
|
3
|
M
|
72
|
V30M
|
PN, CM, GI
|
Late
|
NA
|
+
|
ND
|
Fat Bx/DPD
|
4
|
F
|
64
|
V30M
|
PN, GI, eye
|
Late
|
NA
|
ND
|
Skin+
|
Skin Bx
|
5
|
M
|
66
|
V122I
|
CM
|
Late
|
NA
|
ND
|
Heart+
|
Heart Bx
|
6
|
M
|
62
|
V30M
|
PN, CM
|
Late
|
Type B
|
+
|
ND
|
Fat Bx/DPD
|
7
|
M
|
58
|
V30M
|
PN, CM
|
Late
|
NA
|
−
|
ND
|
DPD
|
8
|
M
|
52
|
V30M
|
PN, CM
|
Late
|
NA
|
+
|
ND
|
Fat Bx/DPD
|
9
|
M
|
46
|
V30M
|
PN, GI
|
Early
|
NA
|
−
|
GI−
|
Clin. picture
|
- Bx, biopsy; Clin, clinical; CM, cardiomyopathy; CT, carpal tunnel; DPD, 99mTc-DPD scintigraphy; Dx, diagnosis; F, female; GI, gastrointestinal; M, male; Mut, mutation; NA, not available; ND, not done; PN, polyneuropathy; −, negative; +, positive