Novel GDAP1 Mutation in a Vietnamese Family with Charcot-Marie-Tooth Disease

Table 1

Summary of clinical characteristics in proband and other family members.

	II-1	II-2	II-3	I-1	I-2
Gender,	Female,	Female,	Male,	Male,	Female
age at visit	16 yos	12 yos	40 mos	46 yos	45 yos
Age of independent working	13 months	12 months	12 months	-	-
Age of onset	27 mos	27 mos	27 mos	-	-
Muscle weakness	DLL = DUL	DLL > DUL	DLL	No	No
Muscle atrophy	Yes; DLL = DUL	Yes; DLL > DUL	No	No	No
Tendon reflexes	Absent	Absent	Decrease	Normal	Normal
Sensory loss
(i) Pinprick	Yes	Yes	Yes	Normal	Normal
(ii) Vibration	Yes	Yes	Yes	Normal	Normal
Deformity	Pes cavus	Pes cavus	No	No	No
Respiratory failure	No	No	No	No	No

DLL: distal lower limbs; DUL: distal upper limbs.