Table 1.

Characteristics of patients with GJB1 mutation.

No.	Age/sex	Onset age (years)	PNS manifestation			CNS manifestation	Edx	GJB1 Mutation	Family history
			Distal leg weakness	Pes cavus	Hand weakness
1	34/M	Early#	+	+	+	Mild cognitive impairment	D+A, M+S*	Val38Ala	Grandfather, a brother, two maternal aunts, and cousins
2	20/M	14	+	+	–	No	D+A, M+S	His123Tyr	None
3	26/F	24	+	+	–	No	D+A, M+S	Arg15Gln	Father and son
4	6/M	Early	+	–	–	No	D, M	Arg15Gln	His mother is patient 3
5	13/M	Early	+	+	–	No	D+A, M+S	Ser62Thr	Maternal grandfather. Mother has pes cavus without symptoms
6	21/M	19	+	+	+	No	D+A, M+S	Arg15Gln	Mother has pes cavus without symptoms
7	16/M	Early	+	+	–	No	D+A, M+S	Ile127Phe	A brother, mother, uncle, and grandmother on maternal side
8	23/M	Early	+	+	+	No	D+A, M+S	Ile127Phe	The patient is brother of patient 7
9	11/M	Early	+	–	–	No	D+A, M+S	Arg183his	Grandfather and cousin on maternal side
10	29/M	NA	+	–	–	No	NA	Ser26Leu	Maternal uncle
11	7/M	6	–	–	–	Episodic limbs weakness and dysphasia	Normal	Arg107Trp	None

^*D, demyelinating; A, axonal; M, motor; S, sensory.

#Early, early childhood.

PNS, peripheral nervous system; CNS, central nervous system; Edx, electrodiagnostic; NA, not available.