Table 1.
Clinical information on individuals with LMNA mutations used in this study.
| Nucleotide Change | Domain Affected | Age of Diagnosis | Clinical Diagnosis | MSK | Cardiac | Contractures | Ref. |
|---|---|---|---|---|---|---|---|
| 65C > T | Head | 45 (NR) | Familial DCM | x | 30 | ||
| 176T > C | Rod | 16 (F) | Progeroid Features | x | x | 31 | |
| 176T > G | Rod | 10 (F) | “Malouf syndrome" like Laminopathy | x | x | 32 | |
| 665A > C | Rod | Birth (M) | EDMD 3 | x | x | x | 11 |
| 665A > C | Rod | Childhood (F) | EDMD 3 | x | x | ||
| 665A > C | Rod | 5–6 years old (M) | EDMD 3 | x | x | x | |
| 1346G > T | Tail | 3 (NR) | CMD | x | x | 19 |
M: Male; F: Female; NR: Not Reported; MSK: Musculoskeltal; x, indicates presence of disease phenotype.