Gene: [01q22/MPZ] myelin protein zero (Charcot-Marie-Tooth neuropathy 1B); Charcot-Marie-Tooth neuropathy 1B (peroneal muscular atrophy; MIM:118200); hereditary motor and sensory neuropathy, type 1B (Charcot-Marie-Tooth neuropathy 1B; MIM:118200); hereditary motor and sensory neuropathy type III (Dejerine-Sottas syndrome; MIM:145900); [CMT1B HMSN1b ]
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CAG |
[1] Contradictions in early reports on the possible localization of
the CMT1 neuropathy gene is accounted for by genetic heterogeneity
of the disease. For details on other forms of the Charcot-Marie-Tooth
neuropathy see GEM:17p112/PMP22.
[2] Hayasaka-1993e found 2 point mutations in the MPZ gene also caused Dejerine-Sottas syndrome." |
|
PAT |
CMT1B is the slow nerve conduction type. |
|
FOG |
The inheritance is autosomal dominant with incomplete penetrance and the wide variability of the symptoms." |
|
LIN |
Loci: GEM:01q2/FY; GEM:01q23/IGHGR2A.
[1] MPZ is linked with FY {LS=2.1; theta=0}(Nicholson-1989). [2] MPZ is linked with IGHGR2 (Lebo-1989)." |
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REF |
LOC,LIN "Bird TD &: AJHG, 34, 388-394, 1982 LOC,LIN "Bird TD &: AJHG, 32, A99, 1980 CLO,SEQ,MUT "Blanquet-Grossard F &: Clin Genet, 48, 281-283, 1995 LOC,LIN "Chance &: CCG, 46, (HGM9), 592, 1987a LOC,LIN "Chance &: Neurology, 37, 325-329, 1987b HIS "Charcot, Marie: Rev Med, 6, 97-138, 1886 HIS "Dawidenkow SN: Z Ges Neurol Psychiat, 107, 259-320, 1927 LOC,LIN "Dyck PJ &: Mayo Clin Proc, 58, 430-435, 1983a PAT "Dyck PJ &: Neurology, 13, 1-11, 1983b HIS,LIN "Griffiths &: Neurology, 39, 280-281, 1989 LOC,LIN "Griffiths &: CCG, 46, (HGM9), 624, 1987 LOC,LIN "Guiloff RJ &: Ann Hum Genet, 46, 25-27, 1982a LOC,LIN "Guiloff RJ &: J Neurol Neurosurg Psychiat, 45, 669-674, 1982b CLO,SEQ,LOC,MUT "Hayasaka K &: BBRC, 194, 1317-1322, 1993a CLO,SEQ,LOC,MUT "Hayasaka K &: Genomics, 17, 755-758, 1993b CLO,SEQ,MUT "Hayasaka K &: Hum Mol Genet, 2, 1369-1372, 1993c CLO,SEQ,LOC,MUT "Hayasaka K &: Nature Genet, 5, 31-34, 1993d CLO,SEQ,LOC,MUT "Hayasaka K &: Nature Genet, 5, 266-268, 1993e CLO,SEQ "Hayasaka K &: BBRC, 180, 515-518, 1991 CLO,SEQ,MUT "Himoro M &: Biochem Mol Biol Int, 31, 169-173, 1993 LOC,LIN "Ionasescu V &: AJHG, 42, 74-76, 1988 LOC,LIN "Ionasescu V &: CCG, 46, (HGM9), 633, 1987 CLO,SEQ,MUT "Kulkens T &: Nature Genet, 5, 35-39, 1993 CLO,SEQ,MUT "Latour P &: Hum Mut, 6, 50-54, 1995 LOC,LIN "Lebo &: AJHG, 45, A148, 1989 CLO,SEQ,MUT "Nelis E &: Hum Genet, 94, 653-657, 1994 LOC,LIN "Nicholson &: CCG, 51, (HGM10), 1052-1053, 1989 CLO,LOC,MAP "Oakey RJ &: Hum Mol Genet, 1, 613-620, 1992 REV,MUT "Patel PI, Lupski JR &: Trends Genet, 10, 128-133, 1994 CLO,SEQ,LOC "Pham-Dinh D &: Hum Mol Genet, 2, 2051-2054, 1993 LOC,LIN "Raeymaekers P &: Hum Genet, 81, 231-233, 1989 CLO,SEQ,MUT "Roa BB &: Hum Mut, 7, 36-45, 1996 CLO,SEQ,MUT "Rouger H &: AJHG, 58, 638-641, 1996 HIS,LIN "Spaans &: Brain, 109, 1149-1168, 1986 LOC,LIN "Stebbins, Conneally: AJHG, 34, A195, 1982 CLO,SEQ,LOC,MUT "Su Y &: PNAS, 90, 10856-10860, 1993 HIS "Tooth HH: (in) Peroneal type of progressive ..., London, HK Lewis, 1886 |
|
KEY |
mem, neu, myo, imm |
|
CLA |
coding, basic |
|
LOC |
01 q22 |
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MIM |
MIM: 159440 |
|
SYN |
CMT1B HMSN1b |
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