Table 1 clinical features and mutations observed in the available patients. Some families have more than one patient and their features are separated from each other by comma
Family | Mutation | Zygosity | Age at onset (yrs) | Loss of ambulation (yrs) | Calf hypertrophy | Ankle contractures | Winging scapulae | Scoliosis | Lordosis | Serum CK (U/L) | Muscle biopsy | EMG with myopathic features |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAPN3 | ||||||||||||
 F1 | c.291C>A | Homo | 19 | ambulant at age 28 | No | NA | Yes | NA | Yes | 14000 | NA | Myopathic pattern |
 F2 | c.380G>A | Homo | 5 | No | Yes | No | Yes | No | Yes | 4,092 | MD | NA |
 F3 | c.550delA | Homo | 6, 6 | 30, Ambulant at age 28 | NA, NA | No, No | NA, NA | NA, NA | NA, NA | 922 | MD | Yes |
 F4 | c.567delG | Homo | 6, 13 | 19, 23, Ambulant at age 11 | No, No, Yes | No | Yes | NA, Yes, No | Yes, No, No | 12000, 15070 | NA | Myopathic disorder |
 F5 | c.946-2A>G | Homo | 12, 18 | 27, 26, Ambulant at age 25 | No | No, NA | Yes | No | No | NA | NA | Yes |
 F6 | c.956C > T/c.2257 delGinsAA | Compound hete | 23 | Ambulant at age 58 | Slight | No | Yes | No | No | 418 | NA | Sever myopathic process |
 F7 | c.1714C>T/c.2311G>A | Compound hete | 11, 16 | Ambulant at age 25,31 | No | No, Yes, Yes, Yes | No | No | Yes, No, No, No | 283,721 | MD, NA | Yes, Yes, Yes, NA |
 F8 | c.1894 A>T | Homoa | 3, 4 | NAb, No | No | No | No, Yes | NA, No | No, NA | NA | MD | Myopathic disorder |
 F9 | c.2105C>T | Homo | 9 | Ambulant at age 24 and 29 | Slight, No | NA, No | Yes, Slight | Yes, Slight | NA, No | NA | NA | NA |
 F10 | c.2105C>T | Homo | 8, 15 | 15,Ambulant at age of 19 | No | Yes | Yes | No | Yes | 5182-10,580 | MDc | Yes |
 F11 | c.2105 C>T/ c.380G>A | Compound heted | 12, 13 | 15, Ambulant at age 19 | 3,985 | NA | Yes, NA | NA | Yes, No | 2888-7,120 | NA | Yes |
 F12 | c.2243G>A | Homo | 5-9 | 26, ambulant at age 25 | No | No | Yes | No | Yes | 558-1783 | MD | Myopathic disorder |
 F13 | c.2254-2256delAAC | Homo | 10, 16 | 30, 30, Ambulant at age 22-41 | NA | NA | NA | NA | NA, NA, Yes, NA | NA | NA | NA |
 F14 | c.2373C>T | Homo | 12 | - | NA | + | + | + | + | 2498 | MD | Yes |
 F15 | c.2380+2T>G | Homo | 6, 11 | 23,25 | Yes | Yes | No, Yes, Yes | No, Yes, Yes | No, Yes, Yes | NA | MD | NA |
 F16 | - | - | 1 | Ambulant at age 11 | No | No | No | No | No | 1004 | MD | No |
 F17 | - | - | 10,10,10,11 | 32,Ambulant at ages19,11,9 | No,Yes,Yes,NA | NA | NA | NA | NA | NA | NA | NA |
DYSF | ||||||||||||
 F18 | c.(1053+1_1054-1)_(1397+1_1398-1)del | Homo | 22,14 | 27,24 | No, No | Yes, Yes | No, No | No, No | No, Yes | 3000,2368 | Dysferlinopathy | Yes |
 F19 | c.2419C>T | Homo | 35,23 | 43, 25 | Yes, Yes | No, No | No, No | No, No | No, No | 4500 | Dysferlinopathy | Yes,Yes |
 F20 | c.2706dupC | Homo | 15 | Ambulant at age 20 | Yes | No | No | No | No | 11726 | Dysferlinopathy | Yes |
 F21 | c.2706dupC | Homo | 18 | Ambulant at age 21 | No | No | No | Yes | Yes | 12000 | Dysferlinopathy | Yes,BMDe |
 F22 | c.3112C>T | Homo | 19 | 29, 28 | No, No | NA1, NA | Yes, No | No, Yes | Yes, Yes | 3900 | Dysferlinopathy | Yes |
 F23 | c.3225delT | Homo | 13,19 | 29, 30 | No, No | No, No | No, No | No, No | No, No | 4099, 6506 | LGMD | Yes,Yes |
 F24 | c.4639-1G>A | Homo | 19,21,24 | 30,33,35 | No, No,No | No, No,NA | No,No, No | No,No | No , Yes,Yes | 3900, 2356,4500 | Dysferlinopathy | Yes |
 F25 | c.5633T>C | Homo | 22, NA | Ambulant at ages of 33, 33 | No, No | No, No | No,No | No, No | Yes,Yes | 4586, 3850 | Myositis | Chronic myopathy in lower limbs, Myoshi myopathy |
 F26 | c.5804C>T | Homo | 20,17,18 | 44, Ambulant at ages of 33 and 28 | No, No, No | Yes, No, No | Yes, No, No | Yes, Yes, No | Yes, Yes,Yes | 3000 | LGMD | LGMD |
SGCA | ||||||||||||
 F27 | c. 319–329 delGCCTACAATCG | Homo | 10,7,5 | 14,12,7 | No,Yes,No | Yes,Yes,Yes | Yes,Yes,No | Yes,Yes,No | Yes,Yes,No | NAb, NA,16428 | NA, NA ,Alpha sarcoglycanopathy | NA,Yes, Yes |
 F28 | c.427C>A | Homo | 6 | - | Yes | NA | NA | NA | NA | 13003 | NA | NA |
 F29 | c.687-688delTC | Homo | 5 | 10 | NA | NA | NA | NA | NA | 5570 | NA | DMD |
SGCB | ||||||||||||
 F30 | c.-10_16dup26 | Homo | Normal at age 10,17 | NA, Ambulant at age 17 | Yes, Yes | No, No | No, Yes | No, Yes | No, Yes | 6670, 1600 | MD | Yes |
 F31 | c.(33+1_34-1) _ (243+1_244-1) del | Homo | 3,6 | 8,13 | NA | Yes,Yes | Yes, Yes | No, Yes | Yes, Yes | 10824 | Beta sarcoglycanopathy | NA |
 F32 | c.(33+1_34-1) _ (243+1_244-1) del | Homo | 7,9,9,9 | Ambulant at ages of 9 and 9,wheelchair bound at 13 and 10 | NA | No,No,No, Yes | No,No, No,No | NA,No,No,Yes | Yes,Yes, Yes, Yes | 9360 | Beta sarcoglycanopathy | Yes |
 F33 | c.(33+1_34-1) _ (243+1_244-1) del | Homo | 5 | NA | No | NA | No | NA | NA | 8500 | NA | Yes |
 F34 | c.(33+1_34-1) _ (243+1_244-1) del | Homo | 2,2 | 6,Ambulant at age 4 | NA | Yes,NA | No,No | No,No | No,No | NA | NA | NA |
 F35 | c.(33+1_34-1) _ (243+1_244-1) del | Homo | 9,9 | 13,12 | NA | Yes,Yes | Yes,Yes | Yes,Yes | Yes,Yes | 840 | NA | Yes |
 F36 | c.(33+1_34-1) _ (243+1_244-1) del | Homo | 2 | Ambulant at age 8 | Yes | NA | NA | NA | NA | 9582 | Beta sarcoglycanopathy | Yes |
 F37 | c.(33+1_34-1) _ (243+1_244-1) del | Homo | 5,6 | 11,14 | No, No | No,NA | Yes,Yes | Yes, No | No, No | 14500,11200 | Beta sarcoglycanopathy | NA |
 F38 | c.(33+1_34-1) _ (243+1_244-1) del | Homo | 7 | Ambulant at age 9 | No | No | No | No | NA | 7800 | MD | Yes |
 F39 | c.622-1G>C | Homo | NA | NA | NA | NA | NA | NA | NA | 12395,23490,33450 | Beta, Gamma sarcoglycanopathy | Yes |
 F40 | c.753+1G>A | Homo | 8 | Ambulant at age 11 | No | NA | NA | NA | NA | 13600 | NA | Yes, DMD |