Clinicopathological-genetic features of neutral lipid storage disease with myopathy from a Chinese neuromuscular center
Abstract Background Neutral lipid storage disease with myopathy (NLSDM) is a rare genetic myopathy caused by mutations in the patatin-like phospholipase domain-containing protein (PNPLA2) gene. To date, the number of reported cases remains limited and the correlation between disease phenotypes and g...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-07-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-025-03861-7 |
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