A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease

Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy resulting from mutations in >30 genes expressed in either the Schwann cells or the axon of peripheral nerves. The disease is classified into demyelinating (CMT1), axonal (CMT2) or intermediate (CMTI) based on electrophysio...

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Main Authors: Nicolaou, Paschalis, Cianchetti, Carlo, Minaidou, Anna, Marrosu, Giovanni, Zamba-Papanicolaou, Eleni, Middleton, Lefkos, Christodoulou, Kyproula
Format: Artigo
Language:Inglês
Published: Nature Publishing Group 2013
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3548253/
https://ncbi.nlm.nih.gov/pubmed/22781092
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.146
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