# | Age | Family history | Onset of symptoms | Weakness distribution | Scoliosis | Respiratory involvement | Cardiac involvement | CK U/l | EMG | Muscle biopsy | Mutation | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | M | 70 | yes | adult | proximal and distal lower limb | no | no | CMH | 944 | myopathic | cores | c.4303 T > C p.Ser1435Pro |
TA weakness | ||||||||||||
2 | F | 64 | yes | adult | axial, proximal and distal lower limb | yes | no | no | normal | myopathic | cores | c.4303 T > C p.Ser1435Pro |
TA weakness | ||||||||||||
3 | F | 36 | yes | adult | distal lower limb | no | no | no | normal | myopathic | na | c.4303 T > C p.Ser1435Pro |
4 | M | 22 | no | childhood | axial, distal upper and lower limbs | rigid spine | yes | recurrent pericarditis | 711 | na | minicores | c.4850_4852del p.Lys1617del |
TA weakness | ||||||||||||
mild restrictive from age 16 | ||||||||||||
5 | F | 48 | yes | childhood | distal upper and lower limbs | yes | no | no | normal | na | minicores | c.4807G > C p.Ala1603Pro |
TA weakness | ||||||||||||
6 | F | 16 | yes | congenital | axial, distal upper and lower limbs | yes | no | no | normal | na | na | c.4807G > C p.Ala1603Pro |
7 | M | 8 | no | congenital | axial | yes | no | LVNC | normal | myopathic | minicores | c.5655 + 1G > A p.1854_1885del |
8 | M | 35 | noa | childhood | axial and distal | yes | no | no | 720 | myopathic and neurogenic | cores | c.4850_4852del p.Lys1617del c.4855G > A p.Glu1619Lys |
TA weakness | ||||||||||||
9 | M | 68 | yes | adult | axial proximal distal | yes | no | LVNC and PM | 400-500 | myopathic | FTD | c.5401G > A, p.Glu1801Lys |
10 | M | 40 | yes | adult | proximal and distal lower limb | no | no | LVNC and PM | 400-500 | myopathic | FTD | c.5401G > A, p.Glu1801Lys |
11 | M | 38 | yes | adult | proximal and distal lower limb | no | no | LVNC | 400-500 | na | na | c.5401G > A, p.Glu1801Lys |
12 | M | 7 | yes | no muscle symptom | normal | no | no | LVNC | 1400 | na | na | c.5401G > A, p.Glu1801Lys |
13 | F | 59 | yes | adult | proximal and distal lower limb | rigid spine | no | no | normal | myopathic | cores | c.4315G > C p.Ala1439Pro |
proximal onset | ||||||||||||
14 | F | 58 | no | adult | proximal upper and lower limb | na | no | no | 450 | myopathic and neurogenic | unspecific | c.4363G > T, p.Glu1455X |
15 | F | 20 | no | childhood | axial and distal lower limb | yes | yes | no | normal | na | unspecific | c.4475 T > C p.Leu1492Pro |
NIV needed from age 17 | ||||||||||||
16 | F | 39 | no | adult | axial proximal distal | no | no | no | normal | myopathic | na | c.1780C > A p.Leu594Met |
hands onset | ||||||||||||
17 | M | 36 | no | childhood | axial and distal upper and lower limb | no | no | no | normal | na | unspecific | c.5779A > T, p.Ile1927Phe |
18 | F | 18 | no | congenital | axial and distal lower limb | yes (severe) | yes | left bunlde block | normal | myopathic | unspecific | c.5655G > A, p.Ala1885Ala |
NIV needed from age 7 | ||||||||||||
19 | F | 33 | yes | childhood | proximal and distal upper and lower limb | yes | yes | no | normal | myopathic | minicores | c.4850_4852del, p.Lys1617del |
TA weakness | mild restrictive from age 25 | |||||||||||
20 | F | 39 | no | adult | distal axial and proximal | no | no | no | normal | myopathic | cores | c.5808G > C, p.X1936Tyr |
21 | F | 40 | no | adult | distal | no | no | no | 500 | myopathic | hyalin bodies | c.1322C > T p.Thr441Met |
TA weakness |