Table 1 Clinical features of patients with the ERLIN2 mutation.

	II-2	III-1	III-2	III-5	IV-2
Sex	F	M	F	M	M
Age at examination, y	77	53	51	45	23
Age at onset, y	38	15	37	24	22
Disease duration, y	39	38	14	21	1
Symptoms at onset	Awkward gait	Gait disturbance	Awkward gait	Gait disturbance	Awkward gait
Age when wheelchair-bound	63	46	−	−	−
Muscle weakness
Upper limb	5	5	5	5	5
Lower limb	2–3	3–4	4+	4+	5
Muscle spasticity
Upper limb	−	−	−	−	−
Lower limb	+++	++	++	++	+
Deep tendon reflex
Upper limb	1+	2+	2+	2+	2+
Lower limb	4+	4+	3+	4+	3+
Babinski sign	Bilateral	Bilateral	−/−	−/−	−/−
Ankle clonus	−/−	+/+	+/+	+/+	+/+
Bladder dysfunction	−	−	−	−	−
Sensory abnormality	+	+	+	−	−
Paresthesia	−	−	+	−	−
Foot deformity	+	−	−	−	−
Mental retardation	−	−	−	−	−
Seizure	−	−	−	−	−
Scoliosis	+	−	−	-	−

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