Two novel mutations in the GAN gene causing giant axonal neuropathy
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DOI: 10.1007/s12519-018-0140-z
Abstract: BackgroundGiant axonal neuropathy (GAN) is a rare neurodegenerative disease transmitted in an autosomal recessive mode. This disorder presents motor and sensitive symptoms with an onset in early childhood. Progressive neurodegeneration makes the patients wheelchair dependent by… read more here.
Keywords: axonal neuropathy; mutations gan; novel mutations; two novel ... See more keywords