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. 2020 Oct 18;2(2):fcaa174. doi: 10.1093/braincomms/fcaa174

Table 2.

Electromyography data from Limb girdle muscular dystrophy cases

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.