Table 2: Summary of Clinical and Genetic Features of Patients

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**
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).