BMC Neurology

Table 1 Electrophysiological studies

From: A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance

	Index		Sister		Mother
Nerve	CMAP/mV	mNCV/ ms^-1	CMAP/mV	mNCV/ ms^-1	CMAP/mV	mNCV/ ms^-1
N. ulnaris [4.0 mV / 50 ms^-1]	23	68	19	61	15	57
N. tibialis [5.0 mV / 40 ms^-1]	11	51	24	51	6.4	40
N. peronaeus [4.0 mV / 41 ms^-1]	9.9	47	n.d.	n.d.	n.d.	n.d.
	Index		Sister		Mother
Nerve	SNAP/ μ V	sNCV/ ms ^-1	SNAP/ μ V	sNCV/ ms ^-1	SNAP/ μ V	sNCV/ ms ^-1
N. radialis [16 μV / 55 ms^-1]	8.8	67	15	55	6.1	58
N. suralis [3.8 μV / 39 ms^-1]	1.6	50	2.7	43	Ø	n.a.
	Index		Sister		Mother
Muscle	ASA	MUAP/mV	ASA	MUAP/mV	ASA	MUAP/mV
M. deltoideus [1.5 mV]	Ø	2.0	Ø	2.7	Ø	6.4
M. IOD1 [2.3 mV]	Ø	7.5	n.d.	n.d.	Ø	12
M. vastus medialis [2.0 mV]	Ø	16	Ø	28	Ø	28
M. tibialis anterior [1.6 mV]	Ø	4.3	n.d.	n.d.	n.d.	n.d.

Motor nerve conduction studies, sensory nerve conduction studies and needle EMG recorded from the index patient (index), his sister and his mother. CMAP - compound motor action potential; mNCV - motor nerve conduction velocity; SNAP - sensory nerve action potential; sNCV - sensory nerve conduction velocity; M. IOD1 - musculus interosseus dorsalis 1; ASA - abnormal spontaneous activity (fibrillation potentials or positive sharp waves); Ø - not present; n.d. - not determined; n.a. - not applicable. Normal ranges for CMAP, SNAP and MUAP amplitudes as well as NCVs are indicated in brackets in column 1. Pathological results are highlighted bold.

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