| Description |
X-EDMD
(n=15) |
AD-EDMD
(n=10) |
X-EDMD carriers
(n=8) |
| Family history |
familial (14)
sporadic (1) |
familial (7)
sporadic (3) |
familial (8) |
| Age (yrs) |
25 (18-36) |
29 (22-31) |
33 (28-51) |
| Skeletal muscle involvement |
elbow, ankle contractures and spine rigidity (15)
generalized muscle atrophy (3)
arms, calf atrophy (5)
arm atrophy (2) |
elbow, ankle contractures and spine rigidity (9)
generalized atrophy (6)
arms, tights (2)
arms, calf atrophy (1)
wheelchair-bound (2) |
no skeletal muscle involvement |
| Cardiac symptoms |
AVB 2/3 (7)
AF/AFL (5)
tachy-brady (3) |
heart failure (3)
(including NYHA III (1), NYHA II/III (2)
AVB 3 (3)
AF (4)
SVT (3)
VT (1) |
AVB 2/3 (2) |
| Cardiac device/age of implantation |
pacemaker/14-33 yrs) (11) |
Pacemaker/20-41 yrs (5), then ICD/28-29yrs (2 of these 5) |
Pacemaker/42-44 yrs (2) |
| Mutation |
1A>G (2)
3G>A (1)
153delC (6)
192G>T, 194insC (1)
256C>T (1)
266-27del18 (1)
397C>T (1)
399+1G>C (1)
450insG (1) |
334_336del (1)
788T>C (1)
743T>C (1)
1072G>A (1)
1337A>T (1)
1357C>T (4) |
153delC (4)
399+1G>C (2)
450insG (2) |
| CK-MB (%) A |
3.2 (2.6-6.4) (n=11) |
3.4 (2.5-7.7) (n=7) |
9.9 (2.0-10.5) (n=5) |
Values are presented as medians and interquartile ranges