Broadening the paradigm of laminin α2-related muscular dystrophy: A case of partial merosin deficiency with compound heterozygous variants
Laminin α2-related muscular dystrophy is a rare autosomal recessive condition caused by mutations in the LAMA2 gene, with clinical presentations ranging from severe congenital forms to milder phenotypes resembling limb-girdle muscular dystrophy. We report a case of a 4-month-old girl presenting with...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2025-08-01
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| Series: | SAGE Open Medical Case Reports |
| Online Access: | https://doi.org/10.1177/2050313X251366020 |
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