Table 2

Summary of previous reports of MPZ mutations

First author/reference	Mutation	Age at onset (y) (proband)	Median motor conduction velocity in m/s (ulnar)	Phenotype
Kulkens (1993)24	Ser(63)del	Youngest studied, 4	<25^2-153	CMT1
Hayasaka (1993)30		Ser(63)Cys	2^2-151	(6.7)	DSS
Hayasaka (1993)30		Gly(167)Arg	3	10	DSS
Hayasaka (1993)31		Lys(96)Glu	4^2-153	<20^2-153	CMT1
Hayasaka (1993)31		Asp(90)Glu	—	<38^2-153	CMT1
Hayasaka (1993)32	Ile(30)Met	<3	—	CMT1
Hayasaka (1993)33	Arg(98)His	25	19.4	CMT1
Himoro (1993)38	Tyr(82)Cys	16	11	CMT1
Mitsui (1994)21	Tyr(245)Cys	13	“Markedly delayed”	CMT1
Nelis (1994a)18	Asp(134)Glu	—	Mean 13.1	CMT1
Nelis (1994b)52		Ser(78)Leu	—		—	CMT1
		Asp(134)Asn
		Tyr(154)stop
		Tyr(181)stop
Rautenstrauss (1994)⁴	Ala(221)fs	<4	15	DSS
Su (1993)26		Lys(96)Glu	4^2-153	<20^2-153	CMT1
Su (1993)26		Thr(96)Arg-Glu	—	<38^2-153	CMT1
Blanquet-Grossard (1995)23	Ser(63)Phe	At age of walking	13	CMT1
Latour (1995)29	Trp(101)Cys	Childhood	10	CMT1
Bellone (1996)13	Val(232)fs	14^2-153	21^2-153	CMT
Blanquet-Grossard (1996)⁹	Asp(122)Ser	44	32	CMT1
Gabreels-Festen (1996)⁵		Arg(98)His	1.8^2-152	19	DSS
		Lys(130)Arg	2.5^2-152	11	DSS
		Ile(135)Leu	2.5^2-152	7	DSS
		Arg(98)Cys	no^2-152	(8.5)	CH
Ikegami (1996)⁶	Phe(64) deletion^2-150	11	—	DSS
Meijerink (1996)22		Arg(69)His	2	19	CMT1
Meijerink (1996)22		Arg(69)Cys	6 Months	(8.5)	CMT1
Ohnishi (1996)19	Arg(98)His	46	14.8	CMT1
Roa (1996a)35		Met(69)Lys	18	(3.3)	CMT1
Roa (1996a)35		Ser(72)Leu	8	21	CMT1
Roa (1996b)36		Ile(135)Thr	12	15	CMT1
Roa (1996b)36		Gly(137)Ser	22	13	CMT1
Rouger (1996)27		Arg(98)Pro	—	19.6^2-153	CMT1
		Arg(98)Cys	1	9	CMT1
		Arg(98)His	—	—	CMT1
Silander (1996)37		Gly Pro Tyr	1		10	DSS
		Ile (86–89) to
		His Leu Phe
Tachi (1996)34	Lys(131)Arg	7	(7.3)	CMT1
Warner (1996)⁸		Arg(98)Ser	3	11	CMT
		Arg(98)Cys	Infancy^2-151	(6.1)	DSS
		Leu(174) fs	Infancy	not stated	DSS
		Gly(103) fs^2-150	Infancy	absent	DSS
		Gly(103) fs	Not stated	33.6–47.1	CMT
		Gln(215) stop	Infancy	6	CH
Bort (1997)10		Ser(78)Leu	—	—	CMT1
		Arg(98)Cys	—	—	DSS
		splice site	—	—	CMT−
		fs	—	—	CMT1
		fs	—	—	CMT−
Warner (1997)12		Ile(114)Thr;	9 Weeks		8	DSS
		Asn(116)His;
		Asp(128)Asn
		all in same allele
De Jonghe (1998)15	Thr(124)Met	>30^2-153	range 24–59	CMT2
Marrosu (1998)16	Ser(44)Phe	38–62^2-153	mean 42.3	CMT2
Tachi (1998)14	Premature stop	Neonatal^2-151	(3)	CH

del=Deletion; f=frame shift;
↵2-150 homozygous;
↵2-151 CSF protein raised;
↵2-152 single value taken from results of pedigree;
↵2-153 age at independent walking; —=not given or not estimated.