Table 2. Reported cases of the same variants in the LAMA2 gene with our case.
| Patient | CK | EMG | Muscle biopsy | MRI | NGS | Inheritance |
|---|---|---|---|---|---|---|
| P1 (13) | N/A | N/A | + | N/A | c.8038delG | N/A |
| c.5476C>T | N/A | |||||
| P2 (14) | + | + | + | + | c.2958G>A | Paternal |
| c.5476C>T | Maternal | |||||
| P3 (14) | + | − | + | + | c.7987delG | Paternal |
| c.5476C>T | Maternal | |||||
| P4/P5 (12) | + | + | + | + | c.5525C>T | Paternal |
| c.43511-1G>C | Maternal | |||||
| P6 (15) | + | + | N/A | + | c.2749 + 2dup | N/A |
| c.8689C>T | N/A | |||||
| P7 (16) | + | N/A | N/A | + | c.2749 + 2dup | Paternal Maternal |
| c.1338_1339del | ||||||
| P8 (our case) | + | + | N/A | + | c.5476C>T | Paternal |
| c.2749 + 2dup | Maternal |
LAMA2, laminin-α2; CK, creatine kinase; EMG, electromyogram; MRI, magnetic resonance imaging; NGS, next-generation sequencing; N/A, not available.