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 | <252-153 | CMT1 | ||||
| Hayasaka (1993)30 | Ser(63)Cys | 22-151 | (6.7) | DSS | ||||
| Gly(167)Arg | 3 | 10 | DSS | |||||
| Hayasaka (1993)31 | Lys(96)Glu | 42-153 | <202-153 | CMT1 | ||||
| Asp(90)Glu | — | <382-153 | 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 | 42-153 | <202-153 | CMT1 | ||||
| Thr(96)Arg-Glu | — | <382-153 | ||||||
| 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 | 142-153 | 212-153 | CMT | ||||
| Blanquet-Grossard (1996)9 | Asp(122)Ser | 44 | 32 | CMT1 | ||||
| Gabreels-Festen (1996)5 | Arg(98)His | 1.82-152 | 19 | DSS | ||||
| Lys(130)Arg | 2.52-152 | 11 | DSS | |||||
| Ile(135)Leu | 2.52-152 | 7 | DSS | |||||
| Arg(98)Cys | no2-152 | (8.5) | CH | |||||
| Ikegami (1996)6 | Phe(64) deletion2-150 | 11 | — | DSS | ||||
| Meijerink (1996)22 | Arg(69)His | 2 | 19 | CMT1 | ||||
| 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 | ||||
| Ser(72)Leu | 8 | 21 | CMT1 | |||||
| Roa (1996b)36 | Ile(135)Thr | 12 | 15 | CMT1 | ||||
| Gly(137)Ser | 22 | 13 | CMT1 | |||||
| Rouger (1996)27 | Arg(98)Pro | — | 19.62-153 | 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 | Infancy2-151 | (6.1) | DSS | |||||
| Leu(174) fs | Infancy | not stated | DSS | |||||
| Gly(103) fs2-150 | 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 | >302-153 | range 24–59 | CMT2 | ||||
| Marrosu (1998)16 | Ser(44)Phe | 38–622-153 | mean 42.3 | CMT2 | ||||
| Tachi (1998)14 | Premature stop | Neonatal2-151 | (3) | CH | ||||
