Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V

The distal hereditary motor neuropathies (dHMNs) are a heterogeneous group of neurodegenerative disorders affecting the lower motoneuron. In a family with both autosomal-dominant dHMN and dHMN type V (dHMN/dHMN-V) present in three generations, we excluded mutations in all genes known to be associate...

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Hoofdauteurs: Beetz, Christian, Pieber, Thomas R., Hertel, Nicole, Schabhüttl, Maria, Fischer, Carina, Trajanoski, Slave, Graf, Elisabeth, Keiner, Silke, Kurth, Ingo, Wieland, Thomas, Varga, Rita-Eva, Timmerman, Vincent, Reilly, Mary M., Strom, Tim M., Auer-Grumbach, Michaela
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2012
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3397265/
https://ncbi.nlm.nih.gov/pubmed/22703882
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.05.007
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