Laurà, Matilde <br/><br/>
Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain.  [electronic resource] 

 -  Journal of neurology, neurosurgery, and psychiatry  Nov 2007 
 - 1263-6 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1468-330X 
<br/><br/><label>Standard No.: </label>10.1136/jnnp.2006.112276  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Aged<br/>Axons--pathology<br/>Biopsy<br/>Charcot-Marie-Tooth Disease--diagnosis<br/>Chromosome Aberrations<br/>Chromosomes, Human, Pair 1<br/>DNA Mutational Analysis<br/>Diseases in Twins--diagnosis<br/>Exons--genetics<br/>Female<br/>Genes, Dominant<br/>Genetic Carrier Screening<br/>Genetic Testing<br/>Genotype<br/>Humans<br/>Male<br/>Microscopy, Electron<br/>Middle Aged<br/>Mutation, Missense--genetics<br/>Myelin P0 Protein--genetics<br/>Nerve Fibers, Myelinated--pathology<br/>Neurologic Examination<br/>Phenotype<br/>Sural Nerve--pathology