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. 2024 Jun 14;13(6):1001–1006. doi: 10.21037/tp-24-62

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.