Table 1 A summary of patients included in the study.
Sample | Sex | Onset | Occurrence | Parental sample(s) available | Muscle weakness |
|---|---|---|---|---|---|
1 | M | Congenital | Sporadic | Both | Nemaline myopathy, upper limbs weaker than lower13 |
2 | M | Congenital | Sporadic | One | Nemaline myopathy, lower limbs weaker than upper** |
3 | F | Congenital | Sporadic | Both | Global muscle weakness, cognitive difficulties** |
4 | F | Adult | Familial | None* | Distal myopathy with facial weakness. Slowly progressive16 |
5 | M | School age | Familial | Both | Proximal and distal lower limbs. Progressive17 |
6 | M | Adult | Familial | Both | Distal myopathy, lower legs weaker than hands. Slowly progressive18 |
7 | M | Adult | Sporadic | None | Distal myopathy** |
8 | M | Adult | Unclear | None | Distal myopathy** |
9 | F | Adult | Sporadic | None | Proximal myopathy** |
10 | F | Late adult | Sporadic | None | Distal myopathy, lower legs weaker than hands** |
11 | M | Late adult | Sporadic | None | Distal myopathy, lower legs weaker than hands** |
12 | M | Adult | Sporadic | None | Distal myopathy, lower legs weaker than hands** |
13 | M | Late adult | Sporadic | None | Distal myopathy, lower legs weaker than hands** |
