The MFN2 V705I Variant Is Not a Disease-Causing Mutation: A Segregation Analysis in a CMT2 Family

Table 1

Clinical motor and sensory electrophysiology study performed in the index patient IV-6 and individual III-2.

Patient	Age	Motor				Sensory
		Median		Ulnar		Median		Ulnar
		MAP	CV	MAP	CV	SAP	CV	SAP	CV
IV-6	41 y	1.5	49	1.2	59	0	NO	0	NO
III-2	66 y	—	56	—	58	0	0	0	0

MAP: motor action potential (mV), CV: conduction velocity (m/s), SAP: sensory action potential (𝜇V), NO: not obtainable, and (—): not done. Normal motor values were as follows: median MAP > 4.2 mV, median CV > 49 m/s, ulnar MAP > 5.6 mV, and ulnar CV > 47 m/s. Normal sensory values were as follows: median SAP > 9.0 𝜇V, median sensory CV > 56 m/s, ulnar SAP > 8 𝜇V, and ulnar sensory CV > 55 m/s.