Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel

BACKGROUND: CMT-2 is a clinically and genetically heterogeneous group of peripheral axonal neuropathies characterized by slowly progressive weakness and atrophy of distal limb muscles resulting from length-dependent motor and sensory neurodegeneration. Classical giant axonal neuropathy (GAN) is an a...

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Vydáno v:BMC Med Genet
Hlavní autoři: Aharoni, Sharon, Barwick, Katy E. S., Straussberg, Rachel, Harlalka, Gaurav V., Nevo, Yoram, Chioza, Barry A., McEntagart, Meriel M., Mimouni-Bloch, Aviva, Weedon, Michael, Crosby, Andrew H.
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2016
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5112725/
https://ncbi.nlm.nih.gov/pubmed/27852232
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-016-0343-x
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