Characterization of genotype–phenotype correlation with MORC2 mutated Axonal Charcot–Marie–Tooth disease in a cohort of Chinese patients

Table 2 Electrophysiological features in affected members of three families

Nerve	Family 1-IV9			Family 1-V2			Family 1-V3			Family 2 II-1			Family 3 II-2			Family 3 II-3			Family 4 II-2
Nerve	MCV, m/s	DL, ms	CMAP, mV	MCV, m/s	DL, ms	CMAP, mV	MCV, m/s	DL, ms	CMAP, mV	MCV, m/s	DL, ms	CMAP, mV	MCV, m/s	DL, ms	CMAP, mV	MCV, m/s	DL, ms	CMAP, mV	MCV, m/s	DL, ms	CMAP, mV
Median
E-W	62.50	6.36	3.50↓	55.30	6.42	4.00↓	56.10	6.64	13.50	42.10	4.87	0.12↓	48.80	7.10	10.00	48.80	7.40	10.50	50.10	9.90	1.16↓
W-APB		3.24	4.90↓		2.68	6.71↓		2.81	14.20		3.09	0.37↓		2.90	11.50		3.20	10.40		5.71↑	1.22↓
Ulnar
E-W	63.60	5.48	17.00	58.10	5.84	11.60	57.10	6.20	13.40	52.90	5.90	0.10↓	50.00	6.30	7.30	42.50	6.30	7.60	42.90	7.57	0.38↓
W-ADM		2.57	17.20		2.57	13.10		2.52	14.00		2.50	0.10↓		2.00	7.90		1.83	8.60		3.96↑	0.50↓
Tibial
K-A	49.40	10.80	7.00	43.40	11.70	2.60↓	53.10	11.40	13.90	35.10↓	9.40	0.30↓	41.30	10.20	8.50	39.70	11.40	8.20	36.50↓	15.10	1.37↓
A-FHB		3.10	10.30		2.83	3.30↓		3.96	13.60		3.70	0.20↓		2.70	10.80		2.70	11.30		4.68	2.10↓
Peroneal
K-A	48.10	8.84	1.22↓	36.90↓	12.60	0.10↓	56.00	10.40	10.30	40.00↓	6.80	0.10↓	42.10	14.90	0.30↓	46.40	11.50	1.10↓	NR	NR	NR
A-EDB		2.81	1.31↓		4.75	0.13↓		3.45	12.90		2.80	0.14↓		7.30	0.20↓		4.40	1.30↓		NR	NR

	SCV, m/s	DL, ms	SNAP, µV	SCV, m/s	DL, ms	SNAP, µV	SCV, m/s	DL, ms	SNAP, µV	SCV, m/s	DL, ms	SNAP, µV	SCV, m/s	DL, ms	SNAP, µV	SCV, m/s	DL, ms	SNAP, µV	SCV, m/s	DL, ms	SNAP, µV
Median
Dig I-W	NR	NR	NR	37.00↓	3.84	1.55↓	45.60↓	2.54	1.12↓	NR	NR	NR	50.00	2.00	8.80	56.20	1.69	11.00	NR	NR	NR
Ulnar
Dig V-W	NR	NR	NR	30.70↓	3.26	1.34↓	45.90↓	2.66	0.63↓	NR	NR	NR	ND	ND	ND	ND	ND	ND	NR	NR	NR
Peroneus
Dig I-Ankle	NR	NR	NR	NR	NR	NR	34.40↓	4.88	0.52↓	NR	NR	NR	41.40	1.69	9.30	45.80	1.42	5.20	NR	NR	NR
Needle EMG
Abductor pollicis brevis	Chronic neurogenic			Chronic neurogenic Spontaneous muscle activity			Chronic neurogenic			Chronic neurogenic Spontaneous muscle activity			ND			ND			ND
Musculus biceps brachii	Chronic neurogenic			Chronic neurogenic Spontaneous muscle activity			Chronic neurogenic			Chronic neurogenic Spontaneous muscle activity			ND			ND			ND
Abductor digiti minimi	Satellite potential			ND			ND			ND			ND			ND			ND
Tibialis anterior	Chronic neurogenic			Chronic neurogenic Spontaneous muscle activity			Chronic neurogenic			Chronic neurogenic Spontaneous muscle activity			ND			ND			ND
Quadriceps	Chronic neurogenic			Chronic neurogenic Spontaneous muscle activity			ND			Chronic neurogenic Spontaneous muscle activity			ND			ND			ND

A = ankle; ADM = abductor digiti minimi; APB = abductor pollicis brevis; CMAP = compound muscle action potential; DL = distal latency; Dig = digit; E = elbow; EDB = extensor digitorum brevis; FHB = flexor hallucis brevis; K = knee; MCV = motor conduction velocity; SCV = sensory conduction velocity; SNAP = sensory nerve action potential; W = wrist; ND = not done; NR = no response

ISSN: 1750-1172