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Table 1 Electrophysiological features of patients with mutations in HADHB gene

From: A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease

Patients II-1 II-2   Normal value
Age at exam (years) 37 32 34  
Median nerve     
TL (ms) 4.2 4.1 4.1 < 3.9
CMAP (mV) 7.2 2.2 3.6 > 6.0
MNCV (m/s) 44.9 40.6 41.9 > 50.5
F-wave (ms) 36.8 55.0 38.8 < 28.0
Ulnar nerve     
TL (ms) 3.5 4.0 4.0 < 3.0
CMAP (mV) 5.7 5.2 5.8 > 8.0
MNCV (m/s) 40.4 43.1 43.9 > 51.1
F-wave (ms) 33.2 36.8 34.4 < 29.0
Peroneal nerve     
TL (ms) A A A < 5.3
CMAP (mV) A A A > 1.6
MNCV (m/s) A A A > 41.2
F-wave (ms) A A A < 49.0
Tibial nerve     
TL (ms) 3.9 A A < 5.4
CMAP (mV) 0.2 A A > 6.0
MNCV (m/s) 34.0 A A > 41.1
F-wave (ms) 63.0 A A < 52.1
Median sensory nerve     
SNAP (μV) A A A > 8.8
SNCV (m/s) A A A > 39.3
Ulnar sensory nerve     
SNAP (μV) A A A > 7.9
SNCV (m/s) A A A > 37.5
Sural nerve     
SNAP (μV) A A A > 6.0
SNCV (m/s) A A A > 32.1
  1. Bold character indicates abnormal values. A, absent potentials; TL, terminal latency; CMAP, compound muscle action potential; MNCV, motor nerve conduction velocity; SNAP, sensory nerve action potential; SNCV, sensory nerve conduction velocity; NP, no potential.