TABLE 1.
LMNA-related muscular dystrophy patients, major cardiac end points and rare LMNA variants.
| Patient | Sex | Age diagnosis | Phenotype | DCM | Device | LMNA variants (LP, P) | Other variants |
|---|---|---|---|---|---|---|---|
| 1 | M | 11 | L-CMD | No | ICD | c.745C > T (p.Arg249Trp) | GAA |
| 2 | M | 2 | L-CMD | No | PM | c.745C > T (p.Arg249Trp) | AGRN, FLNC |
| 3† | F | 16 | EDMD | Yes | ICD | c.116A > G (p.Asn39Ser) | None |
| 4 | F | 9 | L-CMD | No | No | c.91_93delGAG (p.Glu31del) | None |
| 5 | M | 11 | EDMD | Yes | ICD | c.1358G > C (p.Arg453Pro) | GAA |
| 6 | M | 9 | L-CMD | No | No | c.745C > T (p.Arg249Trp) | None |
| 7 | M | 3 | EDMD | No | No | c.116A > G (p.Asn39Ser) | LAMP2 |
| 8 | F | 8 | EDMD | No | No | c.746G > A (p.Arg249Gln) | None |
| 9 | M | 7 | EDMD | Yes | No | c.91delG (p.Glu31ArgfsTer65) | None |
| 10 | F | 2 | L-CMD | No | No | c.89A > C (p.Gln30Pro) | None |
| 11 | F | 3 | L-CMD | Yes | No | c.1488_1488+9del | NEB |
| 12 | M | 15 | EDMD | No | No | c.1616C > T (p.Ala539Val) | None |
| 13 | M | 15 | EDMD | Yes | ICD | c.112C > T (p.Leu38Phe) | None |
| 14 | F | 8 | EDMD | No | No | c.745C > T (p.Arg249Trp) | None |
| 15 | M | 13 | EDMD | No | No | c.812T > G (p.Leu271Arg) | None |
| 16 | M | 15 | EDMD | Yes | ICD | c.1364G > C (p.Arg455Pro) | None |
| 17 | F | 11 | LGMD1B | No | No | c.810 + 1G > C | None |
| 18 | F | 3 | EDMD | No | No | c.108G > T (p.Gln36His) | COL6A3, GAA |
| 19 | M | 3 | L-CMD | No | No | c.104T > A (p.Leu35Gln) | None |
| 20 | F | 17 | EDMD | No | No | c.1357C > T (p.Arg453Trp) | None |
| 21 | M | 5 | LGMD1B | No | No | c.1357C > T (p.Arg453Trp) | None |
| 22† | F | 18 | EDMD | No | No | c.91G > A (p.Glu31Lys) | DYSF |
| 23*,24* | F | 5 | L-CMD | No | No | c.117T > G (p.Asn39Lys) | CHRND |
| 25 | M | 4 | L-CMD | No | No | c.94_96delAAG (p.Lys32del) | None |
| 26 | M | 4 | L-CMD | No | No | c.745C > T (p.Arg249Trp) | None |
DCM, dilated cardiomyopathy. EDMD, Emery-Dreifuss muscular dystrophy. F, Female. ICD, implantable cardioverter defibrillator. L-CMD, LMNA-related congenital muscular dystrophy. LGMD1B, Limb-girdle muscular dystrophy 1B. LP, Likely Pathogenic. M, Male. P, Pathogenic. PM, pacemaker. *, twins. †, sudden death.