. 2018 Jul 13;141(8):2289–2298. doi: 10.1093/brain/awy172

Table 1.

Summary of clinical findings

Patient	Current age	Age of onset	First symptoms	Developmental delay	Nystagmus/ optic atrophy	Exercise-induced myalgia/ myopathy	Axonal sensori-motor polyneuropathy	Endocrine abnormalities		Haematological abnormalities
Patient	Current age	Age of onset	First symptoms	Developmental delay	Nystagmus/ optic atrophy	Exercise-induced myalgia/ myopathy	Axonal sensori-motor polyneuropathy	Subclinical hypothyroidism	Type II diabetes	Neutropaenia	Microcytic anaemia
P1	13 y	<6 m	Floppy baby	Global	+	+ (eo)	+	+	–	+	+
P2	6 y	1 y 4 m	Nystagmus, LVA	Minor motor^a	+	+ (eo)	_	+	–	+	+
P3	29 y	1 y	Nystagmus, LVA	Minor motor^a	+	+ (to)	+	+	–	+	+
P4	34 y	1 y	Nystagmus, LVA	Minor motor^a	+	+ (to)	+	NA	+ (ao)	+	+
P5	11 y	8 m	Nystagmus, LVA	–	+	+ (eo)	–	–	–	–	–
P6	41 y	6 m	Nystagmus, LVA	Minor motor^a	+	+ (eo)	+	–	+ (+++ao) +	_	_

^aPatients walked at around 2 years of age. + = present; – = absent; ao = adult-onset; eo = early-onset; LVA = low visual acuity; NA = not available; to = teenage-onset.