Table 2 Description of patients with identified mutations

FKRP

c.826C>A/c.826C>A

Female, disease onset at age 11, shoulder girdle muscle weakness and atrophy, pseudohypertrophy of calves, hyperlordosis, respiratory difficulty, CK level (U/l) 700-1500

FKRP

c.826C>A/c.404_405insT

Male, disease onset at age 5 with rhabdomyolysis, hypertrophic cardiomyopathy, hypertrophy of calves, mild proximal weakness, Gowers’ symptom negative, CK level (U/l) 32,000

FKRP

c.826C>A/c.204_206delCTC

Female, age 8, slight proximal muscle weakness, CK level (U/l) 700

CLCN1

c.2680C>T/N

Female, disease onset at age 4, severe proximal muscle weakness, Gowers’ symptom positive, myotonia by EMG, CK level (U/l) 13,059

CAPN3

D06

c.550delA/c.550delA

Female, disease onset at age 4, tip toe walking, proximal muscle weakness and atrophy, scoliosis at age 10, ankle and elbow contractures in teen years, significantly reduced physical activity at age 19, still walking after 34 years from onset, CK level (U/l) 4000 at present.

CAPN3

D07

c.550delA/c.550delA

Female, disease onset at pre-school age, walking and gait disorders, proximal muscle weakness and atrophy, CK level (U/l) 9001

CAPN3

D08

c.550delA/c.550delA

Female, disease onset at age 11, tip toe walking, waddling gait, frequent falling and inability to run, scapular winging, hypertrophy of calves, still walking after 16 years from onset, CK level (U/l) 5722

CAPN3

D09

c.550delA/c.550delA

Female, disease onset at age 7 with history of frequent falling and inability to run, short stature, hypertrophy of calves, proximal muscle weakness, scapular winging, walking with assistance at the age 17, CK level (U/l) 4000

CAPN3

D10

c.550delA/c.550delA

Female, disease onset at age 6, muscle weakness and atrophy in the lower extremities with difficulty running, climbing stairs, and frequent falls, waddling gait, scoliosis, dependent on a wheelchair at age 17, CK level (U/l) 18,826

CAPN3

D16

c.550delA/c.550delA

Male, disease onset at age 14, pes equinovarus from birth, waddling gait, fatigue in his arms progressively worsened to symmetric weakness in hip girdle, scapular winging, walking with assistance at age 29, dependent on a wheelchair at age 32, CK level (U/l) 6370

CAPN3

D23

c.550delA/c.550delA

Female, disease onset at age 7, proximal muscle weakness, still walking after 34 years from onset, CK level (U/l) 7487

CAPN3

D24

c.550delA/c.550delA

Male, disease onset at age 3, tip toe walking, proximal muscle weakness, hypertrophy of calves, significant loss of physical activity at age 14, CK level (U/l) 854