Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy, Dunnigan variety due to heterozygous LMNA variants
Anum, Xilong Li, Rebecca J Brown, Abhimanyu Garg · 2026
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Description
Anum and colleagues reported five families in 2026 with overlapping features of two LMNA disorders. Some LMNA variants cause Dunnigan type partial lipodystrophy, with loss of fat from limbs and trunk, while others cause Emery Dreifuss muscular dystrophy, with joint stiffness, muscle weakness, and heart conduction defects. Only two families with combined features had been reported before.
The new families, each led by a female proband, carried heterozygous LMNA variants and showed both fat loss and muscle heart traits. Clinical, laboratory, and genetic data document the overlap. The report widens the known LMNA spectrum and urges clinicians to look for both patterns when a variant is found.
Catalog record
| CREATOR | Anum, Xilong Li, Rebecca J Brown, Abhimanyu Garg |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 42 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |