Pat. | M/F | FH | Gene | Exon | Mutation | AAO | AAE | First symptom | Weakness | Multisystemic symptoms | CK | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
 |  |  |  |  |  |  |  |  | UL prox. | UL dist. | LL prox. | LL dist. | ptosis | axial | scapular winging | dys-phagia | dys-phonia | respiratory involvement | cardiac involvement | PNP | hearing imp. |  |
F1.III.1 | M | + | DES | 6 | Arg350Pro | 39 | 47 | weakness LL | + | - | + | + | - | - | - | - | - | - | - | - | - | 1031 |
F2.III.4 | M | + | DES | 6 | Arg350Pro | 42 | 74 | weakness LL | - | - | + | + | - | + | - | - | - | - | - | - | - | 2690 |
F3.II.3 | M | + | DES | 6 | Arg350Pro | 48 | 59 | dyspnoea | + | + | + | + | + | - | - | - | - | VC 45%,NV | TAA intermittent, LV hypertrophy | - | + | 2044 |
F4.II.2 | M | + | DES | 6 | Arg350Pro | 36 | 42 | weakness LL | + | - | + | + | - | - | - | + | - | - | - | - | + | 1159 |
F5.II.2 | M | + | DES | 1 | Ser2Ile | 60 | 72 | syncopes | + | - | + | + | - | + | + | - | - | - | 3°AVB, PM | - | - | nl |
F6.1 | F | - | DES | 3 | Glu245Asp | 51 | 62 | weakness LL | - | - | + | + | - | - | - | - | - | - | DCM, AF, 3 °AVB, PM, TI | - | - | nl |
F7.IV.2 | M | + | FLNC | 18 | Val930_Thr 933del | 28 | 40 | weakness LL | - | - | + | - | - | - | + | - | - | - | - | - | - | 629 |
F7.III.4 | F | + | FLNC | 18 | Val930_Thr 933del | 53 | 60 | weakness LL | - | - | + | + | - | - | - | - | - | - | - | - | + | 388 |
F8.III.3 | F | + | FLNC | 48 | Trp2710X | 53 | 59 | dyspnoea | + | - | + | + | - | - | + | - | - | VC 35%,NV | - | - | - | 500 |
F9.1 | M | - | MYOT | 2 | Ser60Phe | 67 | 71 | dyspnoea | - | - | - | + | + | - | - | - | - | - | LBBB, HF, AF, 3°AVB intermittent, PM | ad/sm | - | 206 |
F10.1 | M | - | MYOT | 2 | Ser60Phe | 63 | 67 | myalgia LL | - | - | + | - | - | - | - | - | - | - | - | - | - | 589 |
F11.1 | M | - | MYOT | 2 | Ser55Phe | 55 | 60 | weakness LL | + | - | + | + | - | - | - | - | - | mild | AF, PM, ICD, DCM, HTx, | - | - | 608 |
F12.III.3 | F | + | ZASP | 6 | Ala165Val | 46 | 57 | walking difficulties | - | + | - | - | - | - | - | - | - | - | - | - | - | 182 |
F13.1 | M | - | BAG3 | 3 | Pro209Gln | 34 | 43 | weakness LL | + | - | + | + | - | - | + | - | - | - | - | a/sm | - | 1050 |
F14.1 | M | + | CRYAB | 3 | Gly154Ser | 69 | 69 | rhabdomyolysis | - | - | - | - | - | - | - | - | - | VC 65% | - | - | - | 2000 |