Table 2.
Individual 3 | Individual 4 | Individual 5 | |
---|---|---|---|
Age (years) | 22 | 45 | 29 |
Diagnosis | Limb girdle muscular dystrophy | X-linked Emery–Dreifuss Muscular Dystrophy | Autosomal Dominant Emery–Dreifuss Muscular Dystrophy |
Mutation | LMNA c.1357C>T, p. Arg453Trp |
EMD c.266-3A>G Splice site |
LMNA c.1072G>A p.Glu358Lys |
Decrement on repetitive nerve stimulation (muscles tested) | No (extensor digitorum brevis, abductor digiti minimi, trapezius, nasalis) | No (abductor digiti minimi, trapezius) | No (abductor digiti minimi, trapezius) |
Single fibre EMG (muscles tested) | Subtly abnormal, no blocking (extensor digitorum communis) | Jitter values ranged from normal to high, no blocking (extensor digitorum communis, abductor digiti minimi)* | No blocking or jitter (extensor digitorum communis) |
Routine EMG | Typical myopathic features | Typical myopathic features and high amplitude increased duration motor unit potentials | ND |
ND = not done.