Gene: [08q/CMT4A] Charcot-Marie-Tooth neuropathy 4A;
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COM |
CMT1A is due to a mutation in the PMP22 gene - peripheral myelin protein 22 (GEM:17p112/PMP22). The PMP2 gene (GEM:08q2/PMP2) was mapped to the same region as CMT4A and Othmane-1995 considered PMP2 as a candidate gene for CMT4A but they excluded PMP2 as the defect in CMT4A." |
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REF |
LIN,LOC "Othmane KB &: Genomics, 28, N2, 286-290, 1995 LIN,LOC "Othmane KB &: Hum Mol Genet, 2, 1625-1628, 1993 |
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KEY |
neu |
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CLA |
unknown, basic |
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LOC |
08 q13-21.1 |
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MIM |
MIM: 214400 |
