IPN Mutations
Reference
| Title |
Connexin32 and X-linked Charcot-Marie-Tooth disease. |
| Authors |
Bone LJ, Deschenes SM, Balice-Gordon RJ, Fischbeck KH, Scherer SS |
| Reference |
Neurobiol Dis 4: 221-230, 1997
(PubMed ID:
9361298
)
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GJB1 (Cx32):
(Val13Met)
(Asn14Lys)
(His16Pro)
(Ile20Ser)
(Gly21Asp)
(Arg22Gln)
(Ser26Leu)
(Ile28Asn)
(Ile28Thr)
(Phe29Leu)
(Met34Val)
(Glu41Lys)
(Trp44Leu)
(Val63Ile)
(Arg75Trp)
(Arg75Pro)
(Trp77X)
(Gln80X)
(Ser85Phe)
(Thr86Ser)
(Thr86Asn)
(Pro87Leu)
(His94Tyr)
(His94Gln)
(Val95Met)
(His100Tyr)
(Lys103Glu)
(Arg107Trp)
(Lys124fs)
(Lys124Asn)
(Ser128Pro)
(Arg142Gln)
(Tyr154X)
(Tyr157Cys)
(Pro158Arg)
(Tyr160His)
(Ala161Pro)
(Arg164Gln)
(Pro172Leu)
(Asp178Tyr)
(Cys179Arg)
(Phe180Leu)
(Val181Met)
(Arg183Cys)
(Arg183His)
(Thr185del)
(Lys187Glu)
(Val189Ile)
(Val189Gly)
(Thr191_Phe193del)
(Thr191fs)
(Thr191_Phe193del)
(Phe193Cys)
(Ser198Phe)
(Cys201Arg)
(Leu204Val)
(Asn205Ser)
(Arg219Cys)
(Arg219His)
(Arg220Gly)
(Arg230Cys)
(Arg230Leu)
(Phe235Cys)
(Pro267fs)
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Mutations
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Reference
| Title |
Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1. |
| Authors |
Ikegami T, Lin C, Kato M, Itoh A, Nonaka I, Kurimura M, Hirayabashi H, Shinohara Y, Mochizuki A, Hayasaka K |
| Reference |
Am J Med Genet 80: 352-355, 1998
(PubMed ID:
9856562
)
|
|
GJB1 (Cx32):
(Val37Met)
(Gln57His)
(Arg142Gln)
(Pro172Leu)
(Val177Ala)
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Mutations
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Reference
| Title |
Laboratory Service provision in the South West of England - two years' experience. |
| Authors |
Williams MM, Tyfield LA, Jardine P, Lunt PW, Stevens DL, Turnpenny PD |
| Reference |
Ann N Y Acad Sci 883: 500-503, 1999 |
|
GJB1 (Cx32):
(Arg22Gln)
(Ala39Val)
(Val43Met)
(Lys104Thr)
(Val139Met)
(Arg142Trp)
(Arg142Gln)
(Phe149Val)
(Val177Glu)
(Arg220X)
|
|
Mutations
|
Reference
| Title |
Rapid mutation analysis of Charcot-Marie-Tooth type 1. |
| Authors |
Sillibourne J, Hackwell SM, Stevens CA, Harvey JF |
| Reference |
J Med Genet Suppl1: S87, 1998 |
|
GJB1 (Cx32):
(Ser42fs)
(Arg142Gln)
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Mutations
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Reference
| Title |
Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q). |
| Authors |
Stojkovic T, Latour P, Vandenberghe A, Hurtevent JF, Vermersch P |
| Reference |
Neurology 52: 1010-1014, 1999
(PubMed ID:
10102421
)
|
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GJB1 (Cx32):
(Arg142Gln)
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Mutations
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Reference
| Title |
Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease. |
| Authors |
Yoshihara T, Yamamoto M, Doyu M, Misu KI, Hattori N, Hasegawa Y, Mokuno K, Mitsuma T, Sobue G |
| Reference |
Hum Mutat 16: 177-178, 2000
(PubMed ID:
10923043
)
|
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MPZ (P0):
(Val32Phe)
(Tyr68Cys)
(Lys130Arg)
GJB1 (Cx32):
(Phe69Leu)
(Ser128X)
(Arg142Gln)
(Arg164Gln)
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Mutations
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Reference
| Title |
Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease. |
| Authors |
Dubourg O, Tardieu S, Birouk N, Gouider R, Leger JM, Maisonobe T, Brice A, Bouche P, LeGuern E |
| Reference |
Brain 124: 1958-1967, 2001
(PubMed ID:
11571214
)
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GJB1 (Cx32):
(Arg22Gln)
(Ala39fs)
(Leu56Phe)
(Val91Met)
(His94Asp)
(His94Gln)
(Thr130Ile)
(Arg142Gln)
(Arg164Trp)
(Arg164Gln)
(Glu186Lys)
(Gly199Arg)
(Arg215Trp)
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Mutations
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