Identification of a 4 bp deletion (1560de14) in Po gene in a family with severe charcot-Marie-Tooth disease
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference6 articles.
1. The cytoplasmic domain of myelin glycoprotein P0 interacts with negatively charged phospholipid bilayers.
2. Mutations in demyelinating peripheral neuropathies support molecular model of myelin PO-glycoprotein extracellular domain
3. The major peripheral myelin protein zero gene: structure and localization in the cluster of Fcγ receptor genes on human chromosome 1q21.3 – q23
4. Identification of a de novo insertional mutation in Po in a patient with a Déjérine - Sottas syndrome (DSS) phenotype
5. Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene
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1. Myelin protein zero: Mutations in the cytoplasmic domain interfere with its cellular trafficking;Journal of Neuroscience Research;2006
2. Median nerve motor conduction velocity is concordant with myelin protein zero gene mutation;Journal of Neurology;2005-02
3. Hereditary Motor and Sensory Neuropathies Related to MPZ (P0) Mutations;Peripheral Neuropathy;2005
4. Myelin protein zero gene mutations in Taiwanese patients with Charcot–Marie–Tooth disease type 1;Journal of the Neurological Sciences;2004-04
5. Does parkin play a role in the peripheral nervous system? A family report;Movement Disorders;2004
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