| Entry |
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| Name |
PMP22 gain-of-function mutation
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| Type |
Gain of function
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| Gene |
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| Organism |
hsa_var Human gene variants (Homo sapiens)
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| Variation |
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| Network |
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| Disease |
| H00264 | Charcot-Marie-Tooth disease |
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| Reference |
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| Authors |
Boutary S, Echaniz-Laguna A, Adams D, Loisel-Duwattez J, Schumacher M, Massaad C, Massaad-Massade L |
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| Title |
Treating PMP22 gene duplication-related Charcot-Marie-Tooth disease: the past, the present and the future. |
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| Journal |
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| Reference |
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| Authors |
Auer-Grumbach M, Strasser-Fuchs S, Wagner K, Korner E, Fazekas F |
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| Title |
Roussy-Levy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2. |
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| Journal |
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| LinkDB |
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