| Entry |  | 
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| Name |  | 
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| Type | Loss 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 | 
 | H02357 | Congenital hypomyelinating neuropathy | 
 | H02359 | Dejerine-Sottas disease | 
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| Reference |  | 
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| Authors | McCulloch MK, Mehryab F, Rashnonejad A | 
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| Title | Navigating the Landscape of CMT1B: Understanding Genetic Pathways, Disease Models, and Potential Therapeutic Approaches. | 
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| Journal |  | 
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| Reference |  | 
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| Authors | Marrosu MG, Vaccargiu S, Marrosu G, Vannelli A, Cianchetti C, Muntoni F | 
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| Title | Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene. | 
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| Journal |  | 
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| Reference |  | 
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| Authors | De Jonghe P, Timmerman V, Ceuterick C, Nelis E, De Vriendt E, Lofgren A, Vercruyssen A, Verellen C, Van Maldergem L, Martin JJ, Van Broeckhoven C | 
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| Title | The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. | 
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| Journal |  | 
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| Reference |  | 
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| Authors | Mastaglia FL, Nowak KJ, Stell R, Phillips BA, Edmondston JE, Dorosz SM, Wilton SD, Hallmayer J, Kakulas BA, Laing NG | 
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| Title | Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy. | 
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| Journal |  | 
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| Reference |  | 
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| Authors | Hayasaka K, Himoro M, Sawaishi Y, Nanao K, Takahashi T, Takada G, Nicholson GA, Ouvrier RA, Tachi N | 
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| Title | De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). | 
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| Journal |  | 
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| Reference |  | 
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| Authors | Plante-Bordeneuve V, Guiochon-Mantel A, Lacroix C, Lapresle J, Said G | 
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| Title | The Roussy-Levy family: from the original description to the gene. | 
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| Journal |  | 
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| LinkDB |  | 
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