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. 2021 Oct 22;25(22):10494–10503. doi: 10.1111/jcmm.16978

TABLE 3.

Details of examinations and follow‐up of the patients

Patient No. CK level (U/L) a EMG MRI Muscle biopsy Nerve biopsy Treatment Follow‐up
1 353.9 M/N (decreased MCV) NA IFSV + A + R + I + LP Levocarnitine (2.0 g/d) PD
2 282.8 N NA IFSV + A + D + R + HC + IN Vitamin B1 (60.0 mg/d) PD
3 243.1 M/N (decreased MCV) NA IFSV + D + R + HC + ME + HM Swelling and loss of myelinated fibre; axonal degeneration Vitamin B1 (60.0 mg/d), Mecobalamin (1.5 mg/d) PD
4 165.3 M NA IFSV + A + D + R + HC + HM + IN + LP Adenosine disodium triphosphate (60.0 mg/d) SD
5 244.7 M Multiple abnormal signals in femoral shaft and extensively increased signals in left hamstrings IFSV + R + HC + ME Levocarnitine (2.0 g/d), adenosine Disodium triphosphate (60.0 mg/d) PD
6 249.0 M/N Fatty infiltration and muscle atrophy IFSV + I + LP None NA
7 354.8 M NA IFSV + A + D + R + I Levocarnitine (2.0 g/d) PD
8 1277.0 M Diffuse oedema and swelling of multiple calf muscles IFSV + D + R + HC Adenosine disodium triphosphate (60.0 mg/d), Vitamin B1 (60.0 mg/d) NA
9 229.1 M NA IFSV + R + HC + HM + LP Adenosine disodium triphosphate (60.0 mg/d) PD
10 542.1 M/N NA IFSV + A + D + R + I + HC + HM + LP None NA

Abbreviations: M, myogenic lesion; N, neurogenic lesion; M/N, myogenic lesion accompanied with neurogenic lesion; MCV, motor nerve conduction velocity; NA, not available; IFSV, increased fibre size variation; A, atrophic myofibre; D, degenerative, necrotic and regenerative myofibre; R, rimmed vacuoles; I, inflammatory infiltration; HC, hyperplasia of connective tissue; ME, moth‐eaten myofibre; HM, hypertrophic myofibre; IN, internal nuclei; LP, lipid droplets; PD, progressive disease; SD, stable disease; None, refusal to any treatment.

a

Reference value of CK: 40.0–200.0 U/L.