Patient/Sex |
Age onset |
Family hystory |
CK level (times normal) |
Age at biopsy |
Respiratory function |
Cardiac function |
Physical examination (Clinical diagnosis) |
Genetic Analysis |
P1/M |
30 |
No |
3-5x |
27 |
N |
N |
Weakness of gastrocnemii and posterior thigh muscles (Distal myopathy) |
CAPN3,FKRP DYSF, TCAP, LMNA: normal |
P2/F |
10 |
Yes |
1-1.5x |
48 |
N |
Coronary artery disease |
Proximal lower limb weakness with quadriceps and calf hypertrophy. Scapular winging, mild facial and upper limb weakness (LGMD) |
CAPN3, γ-SGC, FKRP, LMNA, Fukutin, POMT1: normal |
P3/M |
35 |
No |
15-40x |
24 |
N |
N |
Severe distal lower limb weakness, mild lower limb weakness (Miyoshi myopathy) |
Mutations in DYSF*
|
P4/M |
30-35 |
Yes |
3-5x |
35 |
N |
N |
Calf hypotrophy, scapular winging, upper girdle weakness. Pes cavus (LGMD) |
Only the brother was analysed: CAPN3, FKRP, DYSF, TCAP, LMNA, FKTN, POMT1: normal |
P5/F |
18 |
No |
10-15x |
33 |
N |
N |
Proximal and distal weakness in the four limbs with distal onset (LGMD) |
Mutation in DYSF**
|
P6/F |
NA |
No |
NA |
27 |
N |
N |
NA (LGMD) |
NA |
P7/F |
25-30 |
Yes |
10-40x |
30 |
N |
N |
Weakness and calf hypotrophy, then proximal spreading (LGMD) |
Mutations in DYSF***
|
N= normal.
NA= not available.
* mutations: exon 21 1966 A>G (K656Q) + exon 23 2220_2205delins T fs X17 (T734S).
** mutation: exon 50 5626 G>A (D1876N).
*** mutations: exon 27 2875 C>T (R959W).