Table 1:

Clinical features of CMT2U patients with mutations in MARS

	This report	Hirano et al. 2016	Hyun et al. 2014	Nam et al. 2016	Nam et al. 2016	Gonzalez et al.2013	Gonzalez et al.2013
Family	1	2	3	4		5
Variant (NM_004990.3)	c.1189G>A	c.2398C>A	c.2398C>A	c.2398C>A	c.2398C>A	c.1852C>T	c.1852C>T
	p.Ala397Thr	p.Pro800Thr	p.Pro800Thr	p.Pro800Thr	p.Pro800Thr	p.Arg618Cys	p.Arg618Cys
Age at diagnosis (yrs)	11	69	68	N/A	N/A	50	81
Age at onset (years)	<1	66	50	5	16	45	67
Sex	F	F	M	N/A	N/A	M	M
Motor Symptoms	Distal > proximal muscle wasting. Loss of ambulation	Very mild toe weakness without muscle atrophy	Distal muscle wasting	N/A	N/A	Distal muscle wasting	Distal muscle wasting
Sensory Symptoms	Mild sensory symptoms	Dysesthesia in soles	Sensory Loss	N/A	N/A	Stabbing pain in lower limbs	Distal sensory loss
Sural Nerve Biopsy	N/A	Axonal neuropathy	N/A	N/A	N/A	Axonal neuropathy	N/A