. 2022 Dec 1;146(8):3470–3483. doi: 10.1093/brain/awac453

Table 1.

Clinical features of patients with COQ7 mutations

Patient/Sex/Age (years)	Age at onset (years)	Initial symptoms	Pattern of muscle weakness				Pes cavus	Sensory involvement		Pyramidal signs	Cognitive disorders	Ambulation
Patient/Sex/Age (years)	Age at onset (years)	Initial symptoms	UL (prox.)	UL (dist.)	LL (prox.)	LL (dist.)	Pes cavus	UL	LL	Pyramidal signs	Cognitive disorders	Ambulation
II-2/M/36	12	Walking difficulties	−	++	−	+++	+	−	−	+Brisk reflexes, Hoffman’s sign	−	Ambulant without help
II-3/F/25	9	Walking difficulties	−	+	−	++	+	−	+	+Babinski’s sign on left foot	−	Ambulant without help
II-1/M/42	10	Walking difficulties	−	++	+	+++	+	−	−	−	−	Ambulant with ankle foot orthoses

For column ‘pattern of muscle weakness’: − = absent; + = mild; ++ = moderate; +++ = severe; for other columns: − = absent; + = present; dist = distal; F = female; LL = lower limb; M = male; prox = proximal; UL = upper limb.